bluuebunny/crossref_metadata_2025 huggingface dataset:
The clinical spectrum of mitochondrial diseases in neonates and young children and approach to diagnosis
Authors: Meirleir L. De
Published: November 2024

Mitochondrial diseases are becoming more frequently diagnosed in neonates and small children. Different clinical presentations are possible and specific investigations need to be performed in order to get to the right molecular diagnosis necessary for further genetic counseling. MtDNA or nuclear genes can be investigated after biochemical work-up in the affected tissue. In the neonate, severe presentation may lead to early death, so taking the possible mitochondrial disease in consideration is essential, especially in case of severe lactic acidosis, encephalopathy, myopathy, cardiomyopathy or hepatopathy. In infancy, there are three syndromes that can occur more frequently: Pearson’s syndrome due to deletion of mitochondrial DNA; Leigh’s encephalopathy, a progressive neurodegenerative disorder with many different mitochondrial gene mutations; and Alpers’ disease, progressive gray matter degeneration due to mutations in the POLG gene. Different organ involvement is seen in mtDNA depletion syndromes and finally one should also consider CoQ10 deficiency in certain clinical presentations.
Metachromatic leukodystrophy – what is new?
Authors: Krägeloh-Mann I. , Kehrer C. , Gieselmann V.
Published: November 2024

Lysosomal storage disorders have long been considered as not specifically treatable. This is changing now for a number of these diseases and is the case also for metachromatic leukodystrophy. Metachromatic leukodystrophy is a rare inborn error of metabolism caused by arylsulfatase A deficiency and if left untreated it leads to severe neurological symptoms and early death in pediatric patients. This paper gives an update on the genetics, pathophysiology and clinical course of metachromatic leukodystrophy and discusses the treatment protocols which are currently developed for metachromatic leukodystrophy, such as stem cell transplantation and enzyme replacement as well as gene therapy approaches.
Juvenile myasthenia gravis associated with autoimmune channelopathy and mixed connective tissue disease
Authors: Bunoza B. , Barišić N. , Lehman I. , Grđan P. , Vincent A. , Galić S. , Novak M. , Puretić Z. , Slaviček J. , Bosnić D.
Published: November 2024

Background/Aims: Ion channels are crucial elements in neuronal signaling and synaptic transmission. Autoantibodies against voltage-gated ion channels cause disorders in neuromuscular transmission. Autoantibodies against voltage-gated potassium channels (VGKC-Abs) are associated with acquired neuromyotonia and related disorders such as Morvan’s syndrome and limbic encephalitis. The symptoms of myasthenia gravis reflect dysfunction of neuromuscular transmission. Methods and results: We present a 15-year-old girl with ptosis, proximal muscle weakness, neuromyotonia, hyperhidrosis, short memory loss and confusion. AntinAChR antibodies were positive. Electromyography showed neuromyotonic discharges. Cerebrospinal fluid analysis revealed oligoclonal bands. The plasma VGKC-antibody titer was elevated (176 pM, controls 100 pM), along with positive antiganglioside antibodies (GM1, asialo GM1, GM2, GD1a,b) and SS-A 211 U/mL, SS-B 157 U/mL, U1-RNP 188 U/mL, DNA-topo 128 U/mL (control <100). Brain magnetic resonance imaging was normal. The girl was treated with pyridostigmine, steroids, intravenous immunoglobulins and azathioprine, and repetitive plasma exchanges. Neurological impairments and myasthenic crisis occurred in periods of 5-21 days. Conclusion: The neuromyotonia and some of the dysautonomic features are likely to be directly related to the VGKC antibodies in the peripheral nervous system. The central nervous system symptoms are very likely to be due to the direct effects of VGKC antibodies, although there can be some other autoantibodies. A severe clinical course might be related to myasthenia gravis associated with autoimmune disease of the central and peripheral nervous system overlapping probably with mixed connective tissue disease.
Vincristine-induced subclinical peroneal neuropathy with bilateral ptosis
Authors: Krakar G. , Rimac M. , Gojmerac T. , Cvrlje F. Jadrijević , Bošnjak V. Mejaški
Published: November 2024

Toxic vincristine-induced polyneuropathy is a common complication of treatment by this antineoplastic drug. Peripheral nerves in the extremities are often affected, but lesions of other nerves are also possible. Especially severe toxic damage occurs in children with hereditary motor sensory neuropathy. In this paper, we describe a boy aged 5 years suffering from medulloblastoma, with complete initial neurosurgical removal of the tumor, who had no cranial innervation failure or clinical signs of polyneuropathy before the introduction of vincristine therapy. Family history was negative for hereditary neuropathy. During initial radio-chemotherapy treatment, he received a total of six individual doses of vincristine. After the sixth treatment, he developed ptosis on the right eye and in a few days also on the left eye, with otherwise normal ophthalmic status, no other cranial nerve failure of signs of neuropathy, and no other toxic effects of treatment except for intermittent leukopenia, and no radiologic signs of progression on magnetic resonance imaging. The nerve conduction study showed reduced amplitude of both peroneal nerves, normal in others. We concluded that clear clinical cranial neuropathy must have developed as the result of vincristine neurotoxicity despite the findings of subclinical peroneal axonal peripheral neuropathy.
Acute necrotizing encephalopathy
Authors: Šamija R. Kuzmanić , Lozić B. , Fradelić D. , Kolić K.
Published: November 2024

Acute necrotizing encephalopathy is an extremely rare disease outside East Asia and only ten patients have been described so far. Rapid neurologic deterioration, seizures and coma occur after viral illness. We present a 8 month old patient with ANE from Croatia. A female infant developed dramatic neurologic symptoms in the pre-eruption stage of exanthema subitum. On the fourth day of illness, after which the temperature normalized, maculopapular rash of exanthema subitum appeared on the trunk, neck, face and extremities. Elevated titers of imunoglobulin M and imunoglobulin G antibodies to HHV-6 were found. The diagnosis was confirmed by magnetic resonance images. Apparent diffusion coefficient image revealed a specific „tricolor pattern“, slightly high signal in the center of the thalamic lesion, low signal in the surrounding thalamus, and high signal in the peripheral white matter. The patient was treated with acyclovir, high-dose corticosteroids and intravenous immunoglobulin, which resulted in gradual improvement of the symptoms and signs but the patient never attained her premorbid neurologic function. Early diagnosis and appropriate treatment may lead to better neurologic outcomes. The hallmark of this encephalopathy is multifocal, symmetric brain lesion, which can be visualized by magnetic resonance imaging.
Pediatric burn surgery
Authors: Barčot Z. , Kljenak A. , Župančić B. , Škarić I. , Jakobović J.
Published: November 2024

Since the beginning of the new century, significant advances in the treatment of burns are visible at all levels, both in burn surgery and all related disciplines. Surgery of burns has become less aggressive and invasive, with equal or better results, and it is ever more complex and extensive, now representing a separate entity. Pediatric burn surgery is an integral part of burn surgery and pediatric surgical ward for burns is separated from the same department for adults. At the same time, the standards for burn centers are very specific and prescriptive. Innovations in burn surgery such as a variety of new active dressings, cultivated skin, dermal and epidermal semisynthetic grafts, many new products for burn wound protection, hydronecrectomy, selective proteolytic necrectomy, etc. have resulted in new terminology, new guidelines and clinical pathways, creating new experiences, better survival and more options in treating patients with burns, especially those with extensive and life-threatening ones. Surgical treatment of burns in children is just one important link of teamwork approach.
Isolated fracture of proximal fibular epiphysis
Authors: Leko M. , Ivelj R. , Župančić B.
Published: November 2024

Proximal fibular epiphysis is the least injured long bone epiphysis. There are only seven cases reported in the literature as case studies. All other cases are described as fractures associated with tibial fractures. We present a unique case of isolated fracture of proximal fibular epiphysis in a 16-year-old boy, sustained during soccer play.
The effect of adenotonsillectomy on oxygen saturation in children with sleep disordered breathing
Authors: Božanić I. , Roje Ž. , Račić G.
Published: November 2024

Sleep disordered breathing (SDB) is a collective name for various symptoms characterized by a pathologic form of breathing during sleep. Objectives are to evaluate correlation between the size of tonsils and adenoid tissue and SDB based on the fall in oxygen saturation of peripheral blood in children with SDB and to determine the effect of adenotonsillectomy on the improvement of the parameters set forth. The study included 30 children aged 2-10 with SDB, with enlargement of palatine tonsils and adenoid tissue as the main obstruction. Demographic data and heterohistory were taken from parents/guardians accompanying the children for the scheduled operation. Oropharyngoscopic and fiber endoscopic tests as well as bipolar diathermy coagulation adenotonsillectomy with surgical sets for multiple use were performed by an ENT specialist. Pulse oxymeter was placed on the forefinger of the fallenasleep child and was removed in the morning after awakening. Heterohistory and pulse oxymetry control were taken at home after four weeks. All subjects completed the study. The mean patient age was 4.25 (2-8.5) years; there were 16 (53.3%) male and 14 (46.7%) female patients. The most prevalent symptoms were snoring and respiratory pauses (100%), restless sleep (97%), sweating (73%) and sleepiness during the day (57%). All of the children presented grade three or four of tonsillar hyperplasia and fiber endoscopic finding. All parents (100%) were worried because of the symptoms. Symptom relief was proved after adenotonsillectomy. The mean O2 saturation (%) was 77.7437.293 before and 87.884.25 after adenotonsillectomy (p<0.0001). Total duration of oxygen desaturation of >4% was 21.74128.67 before and 0.3670.29 after the operation (p=0.0001). The number of O2 desaturation below 90% per hour was 53.73 before adenotonsillectomy and decreased to 14.60 after the operation (p<0.0001). All parents (100%) were satisfied with the results of the operation. Adenotonsillectomy decreased the symptoms and improved the oxygen saturation measures by nocturnal pulse oxymetry in children with SDB.
Impulsivity and attention in children with mild motor disabilities
Authors: Matijaš T. , Mikelić V. Matijević , Crnković M. , Maček Z. Trifunović , Grazio S.
Published: November 2024

Impulsivity is a reaction that does not include thinking about the possible consequences of behavior. Attention is a psychological state that expresses a focus on something. In the first two years of life, impulsivity and short-term attention are part of normal development. Motor restlessness persisting at later age can be due to emotional or organic causes. Children born with a risk including children with mild motor disabilities appear to show a higher percentage of symptoms of the attention deficit and hyperactivity disorder (ADHD), later manifested as learning and behavioral disorders despite an average development of intelligence. Results of the present study performed by reviewing medical records on 50 children aged 12-36 months hospitalized at Department of Children’s Rehabilitation, Sestre milosrdnice University Hospital, showed that 50% of children had short-term attention on the selected material, while 48% of children were impulsive. The aim of the study was to assess the percentage of children manifesting short-term attention and impulsivity at a very young age, thus enabling their continuous follow up for persistence of such behavior. In this way, their learning and behavioral problems later in life could be minimized or even prevented.
Acute suppurative thyroiditis in children
Authors: Škrabić V. , Vlastelica Ž. , Bedeković V. , Čolović Z. , Tafra R.
Published: November 2024

Acute suppurative thyroiditis is a rare but potentially life threatening disease in children and adolescents, usually occurring as a complication of so-called pyriform sinus fistula. The left thyroid lobe is affected in 90% of cases. Common treatment is a combination of surgical and antibiotic therapy, although good results of less invasive therapeutic approaches have been reported recently from non-randomized studies. We describe three female pediatric patients with acute purulent thyroiditis treated at our Department during a 20-year period, without confirmed sinus pyriform fistula. Two patients had a process in the right lobe of the thyroid, and all of them were treated with antibiotics and surgical therapy.
Headaches in children: 5-year retrospective hospital-based study
Authors: Šojat Lj. Cvitanović , Sruk A. , Juraški R. Gjergja , Malenica M. , Jerković I. , Gerenčir Ž. , Kramer D.
Published: November 2024

The aim is to describe our former experience in clinical evaluation and usage of diagnostic criteria according to the International Classification of Headache Disorders, 2nd Edition, in children with headache. Clinical documentation of patients hospitalized at Department of Neuropediatrics, Sestre milosrdnice University Hospital in Zagreb from January 1, 2003 until December 31, 2007 was retrospectively analyzed. The study included 377 children: 58.6% girls and 41.4% boys, mean age 11 years and 8 months; 89.7% of patients were hospitalized for the first time due to headache. First-ever headache was present in 40.1% and recurrent in 59.9% of patients. Headache occurring for more than 3 months was present in 61.6% of patients. Headaches were classified on the basis of history, physical findings, neurologic status and diagnostic results, as follows: tension-type 36.1%, probable tension-type 5.6%, associated with pathologic changes of extracerebral cranial structures 20.7%, migraines 16.7%, post-traumatic 3.2%, intracranial non-vascular 1.8% and vascular 0.3%, associated with infection 0.8% or disorders of homeostasis 0.5%, and other causes 14.3%. In conclusion, tension-type headache was most common. In order to evaluate the etiological factors that require specific therapy, we recommend detailed clinical evaluation of children with headache duration for more than 3 months.
Clinical aspects of migraine headaches in schoolchildren
Authors: Zubčević S. , Tanović S. , Ćatibušić F. , Užičanin S. , Smajić L.
Published: November 2024

Headaches are on common phenomenon and the most frequently reported pain among children and adolescents. We tried to reveal more information on migraine headaches among schoolchildren. Sixty-two schoolchildren with migraine headaches were included in the study during the 2008-2010 period. These data are part of a wider study of headaches in children. There were 56.45% of female and 43.55% of male children with no statistically significant difference in sex representation. At the time of study completion, migraine headaches were most common in the hospital registry, accounting for 49.2% of cases, followed by 23.8% of tension headaches, 21.4% of secondary headaches, 1.6% of cluster headaches and 4% of unclassified headaches. The frequency of migraine headaches was mostly monthly (35.4%). Pain intensity on a 1-10 scale was most often 8 (27.4%); 54.9% of children rated their pain with 8, 9 and 10, but the question whether pain was debilitating was answered affirmatively by only 19.3% of study children. The leading predisposing factors were stress (40.3%) and exercise (17.7%), while 25.8% of children described a relationship between changing weather conditions and headaches. EEG findings were normal in 74.2%, nonspecific in 12.9% and borderline in 6.4% of study children. Specific epileptic discharges were found in 6.4%. MRI showed changes in 8.1% of cases. Our data suggest that migraine headaches in children are a significant problem and have important part in everyday practice of pediatric neurologist.
Differential diagnosis of grand mal seizures during puberty in neurologically healthy children
Authors: Miočinović Lj. Popović , Čikara M. Mladin , Nađ K. Bošnjak
Published: November 2024

Epileptic syndromes that occur during puberty with grand mal (GM) seizures can present a diagnostic problem. The beginning of the disease is often marked by “big attack”. Juvenile myoclonic epilepsy (JME) in puberty is first characterized by the occurrence of myoclonic jerks mostly in the hand, then by GM, and more rarely by typical absence seizures. The aim is to describe the course of the same disease, JME, in a sister and brother but with a different diagnostic approach, and consequently different therapeutic success. The sister was found to have a GM attack during afternoon nap at the age of 14 years. She was first diagnosed with partial epilepsy with secondary generalization and then with generalized epilepsy. During two years of treatment with topiramate, GM did not recur, routine EEG did not show any epileptiform changes and she was not motivated to continue treatment, so she sought a second opinion. Medical documentation revealed a permanently neglected problem of objects “falling out” of her hand in the morning, especially after sudden awakening or short sleep. We used video EEG with provocation methods (morning awakening and active manipulation of objects with both hands) to record myoclonic hand jerks along with ictal EEG. We diagnosed JME, introduced valproate as the first choice drug (several drug combinations were tried later), but control of myoclonic seizures was never achieved. We did targeted search for “small” seizures in other family members. Shortly thereafter, “blinking” episodes were noticed in the brother, then aged 13.5; myoclonic jerks in his hands were recorded by diagnostic evaluation and video EEG, and valproate therapy was introduced. Seizures were completely stopped. Epileptic syndrome did not manifest the full clinical picture. The GM seizures would have likely prevented the boy from pursuing his desired professional athlete career. In conclusion, undetected and for a long time inappropriately treated JME in the sister resulted in inability to achieve complete seizure control. In her brother, complete seizure control was achieved by early introduction of appropriate JME treatment.
Mesial temporal lobe epilepsy – symptomatic epilepsy with partial complex seizures caused by hippocampal mesial sclerosis
Authors: Jurin M. , Hećimović H. , Sajko T.
Published: November 2024

We report on a good outcome of neurosurgical treatment in a 17-year-old male suffering from drug resistant epilepsy with complex partial seizures. The data on his mother’s pregnancy and delivery as well as on his later psychomotor and intellectual development were normal. The patient had normal neurologic finding from early follow up on. Febrile convulsions occurred three times in infancy. Since he was 4 years old, he had very frequent seizures preceded by epigastric aura and characterized by vegetative symptoms, automatisms and masticatory pantomime. Seizures persisted for years with secondary generalization several times per year despite mono- and polytherapy with all antiepileptic drugs available. After 13 years of unsuccessful treatment with antiepileptic drugs, advantages and complications of neurosurgical treatment were explained to the patient and his parents, emphasizing that neurosurgical treatment leads to seizure freedom in more than 70% of patients suffering from temporal lobe epilepsy. The data obtained by thorough preoperative diagnostics were congruent with the clinical semiology in our patient and subtemporal left osteoplastic craniotomy was performed together with selective amygdalohippocampectomy. Sclerotic left hippocampus with uncus and left entorhinal cortex was removed. Postoperative follow up was without complications. Eight months after neurosurgery the patient is still seizure-free. Seizure freedom improved the quality of his life. We expect a good long-term outcome of the neurosurgical treatment and discontinuation of antiepileptic therapy.
Autoimmune limbic encephalitis in a girl with chronic immune thrombocytopenia
Authors: Šamija R. Kuzmanić , Glavina G. , Čulić S. , Marušić E. , Tomasović M. , Kolić K. , Rešić B.
Published: November 2024

Autoimmune encephalitis occurs in children and adolescents, often in association with other autoimmune diseases, and may be the cause of temporal lobe epilepsy. Immunomodulatory therapy may lead to a favorable outcome. So far, clinical data in children are rare and refer exclusively to paraneoplastic forms. The semiology of seizures involves temporal lobe and patients have behavioral and psychiatric problems. It is not rare for patients to be initially misdiagnosed. In a 16-year-old girl, non-paraneoplastic limbic encephalitis was diagnosed according to Bien and Elger. She had complex partial seizures and developed behavioral disturbances including anxiety, fear, feeling of unreality, auditory hallucinations and insomnia. Immune thrombocytopenia manifesting in chronic form was diagnosed at the age of six. EEG showed frontal fast beta activity. MRI scans demonstrated temporal swelling with T2/FLAIR signal increase. Cerebrospinal fluid showed pleocytosis and positive oligoclonal bands. Serologic tests for neurotropic viruses and PCR analysis for herpes simplex virus were negative. Immunomodulation therapy led to improvement of her clinical status.
Convulsions in male infant are crucial for early diagnosis of tuberous sclerosis complex with final presentation in multiple organs: 13-year follow-up
Authors: Juraški R. Gjergja , Pavlović M. , Malenica M. , Šojat Lj. Cvitanović
Published: November 2024

Tuberous sclerosis complex (TSC) is a multisystem, autosomal-dominant inherited, neurocutaneous disease. Clinical symptoms are caused by the growth of hamartomas in many organs (brain, heart, kidney, skin, eyes, etc.). These days we use major/minor features to diagnose TSC. The disease is variably expressed and can manifest from birth to adulthood. In a 2-day-old infant, the probable diagnosis of TSC was established on the basis of ultrasonography findings of cardiac rhabodomyomas and polycystic kidneys; definitive diagnosis was set up by typical findings on brain computed tomography (CT) scan after the occurrence of non-febrile convulsions at the age of 9 months. Electroencephalography (EEG) was multifocally changed, dysrhythmic. Cutaneous manifestations were visible afterwards. Because of intractable seizures, vigabatrin was induced. Subsequently, he was seizure-free, EEG tracings showed normalization. The boy is severely mentally/physically handicapped. He has been regularly followed up for the last 13 years and the latest findings are indicative of chronic renal impairment. In conclusion, TSC should be considered in infants/children with afebrile convulsions even if no skin manifestations are present yet. To confirm the diagnosis, brain CT-scan or magnetic resonance imaging are recommended, along with seeking for other organ involvement. Deadly complications can be prevented and the patient quality of life improved by regular monitoring of TSC patients.
Differences in prosocial and aggressive behavior in preschool children depending on the frequency of interaction between the child and a puppet
Authors: Hicela I. , Sindik J.
Published: November 2024

Introduction: Puppets are an important educational and therapeutic agent, and an impetus for creative expression in children. Therefore, educators in kindergarten should be familiar with puppets as a medium which is able to stimulate the development of the children. The main goal of this study was to answer the question: are there differences in prosocial and aggressive behavior in preschool children in relation to the frequency of the teacher’s use of puppets in her educational work? Materials and methods: Twenty teachers in kindegartens assessed the level of prosocial or aggressive behavior in 248 children, from kindergartens in the Split-Dalmatia County, aged 5.5 to 7 years (each teacher assessed the children in the educational groups of children in the study themselves). The children were placed in an experimental (in which the educator often uses a paper doll) or a control group (in which the educator very rarely used a paper doll). Teachers assessed the behavior of the children in their own educational group in the kindergarten using a scale for assessing prosocial and aggressive behavior in children (Žužul and Vlahovic-Štetić). Results: Results of the variance analysis showed that children in the experimental and control groups differed significantly in the prevalence of aggressive and prosocial behavior. Aggressive behavior was significantly more frequent in the control group and prosocial in the experimental group. In both groups, these two types of behaviors were negatively and significantly correlated. Discussion: The main finding of this research suggests that regular use of different methods of using puppets in educational work in kindergartens is correlated with the appearance of two forms of social behavior of children (prosocial and aggressive). These results can provide guidance for practical work, with a potential desirable impact on children, preferably using puppets in educational work. Conclusion: Children in the experimental group (more frequent use of puppets in educational work), were assessed by the teachers as more prosocial and less aggressive than in the control group of children. The relationship between prosocial and aggressive behavior in children is negative and statistically significant in the experimental, as well as in the control group.
The pharmacokinetic and pharmacodynamic characteristics of analgesics in children
Authors: Jakobović J. , Butković D.
Published: November 2024

For a large number of medicines, analgesics included, ethical obligations do not permit pharmacological studies in children during pre-registration medicine testing. The very design of such studies is demanding and they are difficult to conduct. The term “children” includes a number of highly diverse groups, from premature neonates to children in puberty and adolescence. Childhood is a period of life in which the complete development and maturation of metabolic paths occurs, including maturation of the metabolic mechanisms responsible for pharmacokinetic and pharmacodynamic processes. The assessment of pain intensity in children presents a number of difficulties, too. Numerous analgesics have a relatively narrow therapeutic width and therefore clinicians are faced with the objective danger of overdosing. Dosage recommendations for specific analgesic agents in children either do not exist or they are based on relatively small clinical studies. Recent multicentric cooperation has made it possible to conduct high quality pharmacodynamic and pharmacokinetic testing for basic analgesics such as acetaminophen, morphine and tramadol.
Psychophysical relaxation as a therapeutic medium in the rehabilitation of children with cerebral palsy
Authors: Slaviček I. , Sabo V.
Published: November 2024

In addition to the basic clinical picture, we find a number of problems in the spectrum of emotional development and socially competent behavior in children with cerebral palsy. The indicated problems are reflected in all segments of the child’s life. Complex treatment and (re) habilitation of these children requires the use of appropriate therapeutic programs to alleviate or eliminate emotional difficulties and behavioral deviations. By use of therapeutic supportive media a child is given the opportunity to detect his/her own undiscovered skills in verbal and nonverbal expression and creation. In this paper, several therapeutic sequences integrated into the module of psychophysical relaxation are presented. The supportive therapeutic medium described, as an integral part of the proposed rehabilitation program, was evaluated through long-term clinical use with children with cerebal palsy. The use of this program resulted in pronounced emotional stability, higher levels of self-esteem and confidence, a better quality of life and successful inclusion into the social environment.
Comparison between plaster cast immobilization and semi-rigid immobilization in children and adolescents with injuries of the knee
Authors: Furlan D. , Pogorelić Z. , Meštrović J. , Furlan M. , Biočić M.
Published: November 2024

The knee is the largest and most complicated joint in the human body. Congruence of the knee surfaces is very complex, and as a result injuries are frequent. Initially, knee injuries are treated with rest, immobilization, cooling and elevation. In this paper we compare measurements of the circumference of the middle part of the thigh in patients with knee injuries that were treated conservatively with semi-rigid immobilization or with plaster cast immobilization. During the period from June 1st 2008 to the January 1st 2009 at the Department of Paediatric Surgery, University Hospital Split, 30 patients were treated for various knee injuries. Fifteen of them were treated with the semi-rigid immobilization and fifteen with plaster cast immobilization. The circumference of every patient’s thigh was measured three times: at admission, and on the 7th and 21st day after the injury. The patients that had been treated with the plaster cast immobilization, after 3 weeks of immobilization had an average decrease of thigh circumference of 5.25 cm, while in patients with semi-rigid immobilization, the decrease was only 2.20 cm, and they also showed more rapid recovery and return to their usual daily activities. If there is an indication for immobilization of the knee we recommend semi-rigid immobilization because, in comparison to plaster cast immobilization, it is more comfortable, easier to use, significantly preserves the tonus and circumference of the thigh muscles and has fewer complications.
Avulsion fractures around the pelvis and hip in adolescents
Authors: Ivelj R. , Leko M. , Borić I. , Krofak S. , Župančić B.
Published: November 2024

Injuries around the pelvis and hip represent acute or chronic stress on bony and soft tissue structures. They occur less commonly then other lower extremity injuries. Apophyseal avulsion fractures are similar in nature to physeal fractures, and occur most commonly in adolescence, especially during sporting activity. Accurate diagnosis and treatment depend on a proper understanding of the mechanism, clinical presentation and natural history.
Neurological symptoms derived from isolated sphenoid sinusitis in children: a report of 3 patients
Authors: Farini M. , Totska S. , Monti C.
Published: November 2024

Inflammation of the sphenoid sinus is rare, and usually occurs in conjunction with other paranasal sinus infections. Isolated sphenoiditis is even rarer and is reported almost uniquely in children older than 6 years. It is frequently misdiagnosed, because of its rarity and its varied and atypical symptoms, but it may induce serious – even fatal complications, due to the involvement of many intracranial structures. We report 3 cases of isolated sphenoiditis in previously healthy children, with various symptoms indicating acute central nervous system (CNS) disorder: A 4 year old boy with sommolence and meningitis-like symptoms, an 11 year old boy with visual illusions and a 12 year old boy with headache, emesis and positive Romberg’s sign. In the initial clinical estimation there was no strong suspicion of infection, except in the 1st patient, because of the atypical symptoms. Diagnosis was established by a head CT scan, and all patients were treated with intravenous clindamycin plus cephalosporine, plus one dose methylprednisolone. The outcome was good.
Tumour necrosis factor inhibitors in treatment of a child with juvenile idiopathic arthritis and associated uveitis
Authors: Kolić I. , Rožmanić V. , Stroligo M. Novak , Alpeza – Dunato Z. , Banac S. , Čače N.
Published: November 2024

The most common rheumatic disease associated with uveitis in childhood is juvenile idiopathic arthritis (JIA) and it occurs in about 15% of patients. Females, younger than 10 years of age, with oligoarticular, antinuclear antibody positive JIA, are at the highest risk for developing chronic uveitis. The course of uveitis is unpredictable with frequent complications, of which cataract and glaucoma as the most common. Therapeutic approach is individual and still remains a challenge for paediatric rheumatologists and ophthalmologists. Biological drugs were introduced fifteen years ago as an alternative mode of therapy with encouraging results. We present a patient with a polyarticular type of JIA and associated uveitis, treated with tumour necrosis factor inhibitors.
Genetic counseling. Statement of Croatian Society of Human Genetics of Croatian Medical Association
Authors: Barišić I.
Published: November 2024

Jedan od glavnih ciljeva Hrvatskog društva za humanu genetiku (HDHG) je unaprijeđenje kvalitete preventivnih metoda, dijagnostike i liječenja genetskih bolesti. Visoki standard kliničke prakse u ovom području može se postići jedino ukoliko su sve navedene odrednice pra- ćene genetskim savjetovanjem koje će, kako sa stručnog tako i sa etičkog stajališ ta, zadovoljiti visoke kriterije koji danas postoje u medicinskoj genetici. Hrvatsko društvo za humanu genetiku HLZ-a stoga donosi smjernice kojima je namjera regulirati proces genetskog savjetovanja u Hrvatskoj i uskladiti ga sa europskom praksom.
Laryngeal cyst in infant
Authors: Raos M. , Marković J. , Tješić-Drinković D.
Published: November 2024

In this paper we report on the case of a 6 month old premature male infant with a laryngeal cyst on the right ventricular fold. Due to severe respiratory distress mechanical ventilation was performed up to 24 days of life. After extubation, inspiratory stridor, feed problems- i.e. difficult and prolonged feeding accompanied by apnoea developed. The reason for hospitalization was aggravation of dyspnoea, caused by severe abdominal meteorism, and suspected torsion in the area of intestinal system. When diagnosis of intestinal torsion was excluded, the diagnosis of laryngeal cyst was performed using fiberoptic endoscopy. The cyst was completely excised endoscopically.
Eosinophilia in children with atopic eczema/dermatitis syndrome
Authors: Dodig S. , Raos M. , Topić R. Zrinski
Published: November 2024

Atopic eczema/dermatitis syndrome (AEDS) is a chronic inflammatory skin disease, already manifested in infancy with major and minor features. The aim was to investigate whether there is a difference between the number of eosinophil granulocytes in children with allergic atopic eczema/dermatitis syndrome (AAEDS) and non-allergic atopic eczema/dermatitis syndrome (NAAEDS), and to find the possible correlation between eosinophilia and the severity index of AEDS. The results have shown that the number of eosinophil granulocites was the highest in children with AAEDS with associated asthma and rhinitis (M = 705 x 106/L; IQR = 490 – 1030 x 106/L), and the lowest in children with NAAEDS (M = 290 x 106/L; IQR = 200 – 460 x 106/L). There was a correlation between eosinophils and the severity index in children with NAAEDS and in children with AAEDS without associated allergic respiratory diseases. This retrospective study has shown that eosinophilia was typical for both, children with AAEDS and those with NAAEDS, respectively, and that the degree of eosinophilia was dependent on disease activity.
Impact of parents’ employment on newborns birth weight
Authors: Misir-Galić L. , Grgurić J.
Published: November 2024

Objective: To determine impact of parents’ employment on newborn’s birth weight. Methods: From the database of Children’s Health Cards an analysis was made of birth weight in six regional hospitals in Croatia for 3.072 newborns according to the employment of their parents. Comparison of the ratio of employed and unemployed mothers was made according to maternal age, complications in pregnancy, gestational age, high and low birth weight.Results: Newborns from employed parents have a higher birth weight comparing to newborn from unemployed parents (p<0.001).The difference is statistically significant for the employment of the father (p<0.001), mother (p<0.001), one (p<0.001) or both parents (p<0.001) compared to unemployed parents. Term newborns of employed parents also have higher birth weight compared to term newborns of unemployed parents (p<0.001). Newborn birth weights of one or two unemployed parents do not differ significantly (p>0.05), but are significantly higher than the birth weights of two unemployed parents (p<0.001). Employed mothers have more frequent births of macrosome newborn (p<0.001), significantly less frequent (p<0.001) low birth weight newborn (<2500 g) than unemployed mothers. Employed mothers have a higher number of complications in pregnancy than unemployed (p=0.002).Unemployed mothers have more frequent preterm births than employed mothers (p=0.027). Conclusion: Newborns of employed parents have significantly higher birth weight than newborns of unemployed parents.
Health-related quality of life assessment in patients with chronic disorders, with the emphasis on children with chronic inflammatory bowel disease
Authors: Abdović S. , Kolaček S.
Published: November 2024

Health-related quality of life (HRQOL) assesses how disease and therapeutic management affect health, psychological status, social interaction and coping with symptoms in respect to the patient’s own perceptions and expectations. The significant increase in the prevalence of inflammatory bowel disease (IBD), relapse-remitting course, debilitating symptoms, and frequent complications make this group of inflammatory diseases very important in respect of the patient’s quality of life, particularly in children. The only IBD-specific HRQOL instrument, developed for paediatric patients, IMPACT III, has already been validated in different countries worldwide. However, in Croatia there are no clinical studies on the quality of life in children with IBD. Moreover, specific HRQOF instruments have not been validated. In order to address this problem, cross-cultural adaptation of IMPACT-III is necessary in order to use it in children suffering from IBD in Croatia.
Value of Valsalva’s manoeuvre in diagnosis of neck mass in children
Authors: Raos M. , Marković J. , Schmidt S.
Published: November 2024

During Valsalva’s manoeuvre the following neck masses could be seen: laryngocele, external laryngeal diverticle, pharyngocele, jugular vein phlebectasia, apical lung herniation, superior mediastinal cyst or tumour. In the present paper three children with neck mass visible during Valsalva’s manoeuvre are presented. In a child with neck mass appearing on the right lateral neck, an internal jugular vein phlebectasis was found. In two children the neck mass appeared in jugulum, above the sternum. In one child, the clinical finding pointed to an apical lung herniation (crepitation in the neck mass); in another child, herniation of the thymus was presumed. As these neck masses are asymptomatic, parents rarely consent to procedures which are intended to elucidate the nature of these formations. In early childhood, it is difficult to achieve conditions for deep inspiration, to register the formation on time, and make an accurate diagnosis.
Foreign body aspiration in children
Authors: Glunčić I. , Cikojević D. , Klančnik M. , Račić G. , Spužević L.
Published: November 2024

Records of children who underwent bronchoscopy for evaluation of foreign body aspiration in the ENT department, Split Clinical Hospital, during the 1992-2008 period, were reviewed retrospectively. A total of 92 bronchoscopies were done, presenting with a mean age of 3.8 (range 1 to 15 years). The peak incidence of foreign body aspiration is about 2 years of age (40% ).The male-female ratio was 59/33 (1.8:1). The foreign body was identified and extracted in 66 % of cases (61 /92) and not identified in 34 % cases (31/92 ). The most common foreign body was a peanut 33 % (20/61), the nut was extracted in 10 cases, other foreign bodies were pieces of apple, hair or grass, pieces of hotdog, insulation wire and plastic parts of a toy. Of the 92 bronchoscopies, 41 (67 %) showed a foreign body commonly located in the right bronchus and 20 (33%) in the left bronchus. The suspicion of foreign body aspiration must be confirmed or excluded by rigid bronchoscopy. Bronchoscopy must be performed in the first 24 or no more than 48 hours after foreign body aspiration to prevent late complications.
Early-onset facioscapulohumeral muscular dystrophy
Authors: Kuzmanić-Šamija R. , Lozić B. , Rešić B. , Tomasović M. , Vlastelica Ž. , Metličić V. , Sedláčkova J.
Published: November 2024

While much is known about the clinical course of adult FSHD, the third most common inherited muscular dystrophy, data on the “infantile phenotype” and especially on the progression of the disease in children are limited. We followed a patient with infantile FSHD for 4 years and here report the clinical and genetic findings. Infantile FSHD is relatively rare. Despite some variability in the progression, infantile FSHD has a more consistent phenotype than adult FSHD. Although they had normal motor milestones, all patients showed facial weakness from early childhood, and subsequently were severely affected with rapid progression of the disease, marked muscular wasting, weakness, and hyperlordosis. Associated nonskeletal muscle manifestations include high-frequency hearing loss as well as retinal telangiectasias, both of which are rarely symptomatic, also cardiac involvement, restrictive respiratory disease, mental retardation and seizures. Our patient has not shown signs of nocturnal hypoventilation or cardiomyopathy so far. He has very short fragment sizes of the D4Z4 repeat. We conclude that infantile FSHD is a severe and rapidly progressive disease, and this needs to be taken into account in the advice given to patients diagnosed in early childhood.
Sub-symptomatic epilepsy in children with severe brain damage
Authors: Krot O. , Cetinić E. L. , Weiss M. , Mučić-Pucić M.
Published: November 2024

Aims: to document the adult outcome for childhood onset symptomatic generalized epilepsies (SGE). Methods: We retrospectively analysed the charts of 52 children with symptomatic epilepsy from 3 – 18 yrs.The diagnosis was established according to the clinical semiology of convulsions, EEG-recordings and neuroradiological findings. General health was also monitored for at least 5 yrs. 66.5% had static encephalopathy as a result of birth trauma (of those 50% were prematurely born, and others were on time with pre/peripartal asphyxia). The others : 1 had metabolic disease, 1 had a congenital brain malformation, 1 had polytrauma with resulting coma. 2 children had nonspecific dysmyelinization, 1 had a brain tumour. AET: valproate 53%, lamotrigine 10%, phenobarbiton 10% oxcarbamazepine 3% and carbamanzepine in 6%. Monotherapy has been considered the gold standard for drug treatment of epilepsy. However there is renewed interest in polytherapy because of the advent of new drugs with fewer drug interactions and new action mechanisms and the realization that most patients with refractory epilepsy are eventually treated with drug combinations. It may be less risky to add a drug than to convert from one monotherapy to another in patients with frequent or severe seizures. Conclusions: The number of convulsive remissions was significantly reduced in all our patients.Some were seizure-free for 6 months, and those with severe refractory epilepsy had 3 -4 remisssions in 6 months, of shorter duration and the clinical picture of the convulsions was less severe and life-threatening than before. In all the children financial dependency and the degree of psychomotor retardation was marked, but the outcome of symptomatic epilepsy was good.
Unstable slipped capital femoral epiphysis
Authors: Đapić T. , Šmigovec I. , Šestan B. , Tudor A. , Antičević D.
Published: November 2024

Slipped capital femoral epiphysis is one of the most common major disorder of the hip in adolescence. Most of the slips are stable and chronic, however about 10% are unstable with sudden onset of pain severe enough to prevent weight bearing. We analyzed cases of unstable slipped capital femoral epiphysis operated upon at our orthopaedic department from 2000 to 2007. During this seven-year period 50 patients (53 hips) underwent surgery for slipped capital femoral epiphysis. Eight patients (8 hips, 15%) were unstable, six boys and two girls, age 8 to 14 (mean 12 years 3 months). Six patients could not bear weight at all and two suffered strong pain when walking. Six patients had a severe grade III slip according to Müller and two were grade II. After a short period of preoperative cutaneous traction, gentle manual closed reduction and fixation with canulated screws and Kirschner wires was performed in all patients. Full range of hip motion was achieved in all patients after a course of physical therapy. No avascular necrosis or chondrolysis were noted in our series. Our treatment protocol for unstable slipped capital femoral epiphysis is emergency admission, gentle closed manual reduction and fixation using appropriate osteosynthetic material.
Atypical forms of Guillain Barré syndrome
Authors: Sasso A. , Paučić-Kirinčić E. , Sindičić N.
Published: November 2024

Guillain Barreé syndrome (GBS) is well defined clinical entity characterized by primary demyelinating lesions of the peripheral nerves and spinal roots. The main signs are: symmetrical ascendant muscular weakness, loss of tendon reflexes, symmetrical sensory loss and autonomic dysfunctions. Neurophysiological tests commonly demonstrate impaired condition of the peripheral nerves. Many variants of GBS are recognized by clinical findings including involvement of motor and sensory nerves and autonomic nervous system. The diagnosis is easy in typical forms but recognition of atypical forms makes the monitoring of disease complications possible and identifies therapeutic options for affected children. We intend to present a case of a pharyngeal-cervicalbrachial form of GBS ( first reported in 1986. ) A 15-year old male developed swallowing difficulties, nasal speech, weakness of bulbar musculature, soft palate and facial muscles paresis, asymmetric weakness of cervical and brachial muscles. The laboratory and neurophysiological tests will be presented as well as videos of the affected patient. Immunomodulatory treatment with i.v. immunoglobulins began and physical therapy was performed. Recovery of muscle weakness begun but the facial muscles recovered more slowly. The differential diagnosis of GBS are presented and the difficulties in diagnosis of GBS in childhood are discussed.