TaoMedAI/RareMedData huggingface dataset:
Incessant infant ventricular tachycardia (ORPHA:45453)
Incessant infant ventricular tachycardia is a rare type of ventricular tachycardia (VT) characterized by the presence of tachycardia originating from the ventricles, observed for more than 10% of a 24 hour monitoring period. Patients are either asymptomatic or present congestive heart failure.
Epidemiology
The incidence of incessant infant VT is estimated to be 1/333,300 live births in the United Kingdom. Males are more commonly affected than females.
Clinical description
This type of VT is diagnosed in infancy or early childhood, usually presenting at between 3 and 30 months of age. The rate of VT ranges from 170 to 440 (mean 260) beats/min occurring more than 10% of the day. The most common clinical presentation is VT with congestive heart failure.
Etiology
The physiopathology of this type of VT is unknown but it has been suggested that microscopic tumors such as myocardial hamartomas, also known as histiocytoid cardiomyopathy (see this term), are responsible.
Diagnostic methods
The electrocardiogram (ECG) usually shows a type of right bundle branch block morphology and a superior axis, predicting a tachycardia origin in the posterior or inferior left ventricle. There is usually clear evidence of ventriculo-atrial block with dissociated P waves, or capture beats or fusion beats. The finding of wide QRS tachycardia with retrograde block confirms the diagnosis of ventricular tachycardia. No structural abnormalities are found on the echocardiogram but there is often poor ventricular function at presentation.
Differential diagnosis
The differential diagnosis includes other types of ventricular tachycardia and supraventricular tachycardia with a wide QRS.
Management and treatment
Immediate treatment involves control of tachycardia and general support or resuscitation as required. Intravenous lidocaine (1-2 mg/kg) will usually slow or stop the tachycardia leading to rapid symptomatic improvement. Intravenous amiodarone is an alternative. Direct current (DC) cardioversion is usually ineffective. Once sinus rhythm has been restored, drugs such as amiodarone and flecainide are usually effective in suppressing the arrhythmia, sometimes in combination with a beta-blocker. Digoxin and verapamil are best avoided as they may worsen the tachycardia and lead to cardiovascular collapse.
Prognosis
Tachycardia usually resolves before the age of five years and drug treatment can be withdrawn. Late recurrence is unusual.

                            Last update: 
                            November 2013


                            - Expert reviewer(s): 
                            Dr Christopher WREN
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (ORPHA:52430)
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy; see this term); early-onset Paget disease of bone (see this term), manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia (see this term), manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.
Incomplete septal cirrhosis (ORPHA:596941)
A histopathological form of portosinusoidal vascular disease characterized by the presence of incomplete, thin, perforated, or blind-ended septa, which intermittently delimit rudimentary nodules, although complete cirrhotic-type regenerative nodules are not seen. Isolated collagen bundles can also be observed within the parenchyma.
Indeterminate cell histiocytosis (ORPHA:158019)
A rare neoplastic disease characterized by multiple, and on occasion single, asymptomatic, smooth, red-brown papulonodules located on the face, neck, trunk and/or extremities which present a nonepidermotrophic histiocytic infiltrate with immunohistochemical features of both Langerhans and non-Langerhans cells (i.e. immunopositive for S100 protein and CD1a in the absence of Birbeck granules and langerin expression).
Indomethacin embryofetopathy (ORPHA:1909)
Indomethacin embryofetopathy refers to the manifestations that may be observed in a fetus or newborn when the mother has taken indomethacin, a potent prostaglandin inhibitor and tocolytic agent that can cross placenta, during pregnancy. Reported adverse fetal/neonatal effects include decreased renal function resulting in oligohydramnios, closure of the ductus arteriosus, and delayed cardiovascular adaptation at birth. These effects are usually transient and reversible. Indomethacin may also be a risk factor for cerebral injury (periventricular leukomalacia) and necrotizing enterocolitisin preterm infants.
Infantile apnea (ORPHA:70590)
Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea.
Infantile bilateral striatal necrosis (ORPHA:1576)
Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic (see these terms).
Epidemiology
The prevalence of the sporadic form has been estimated at 1-9/1,000,000 and prevalence of the familial form has been estimated at less than 1/1,000,000.
Clinical description
The age of onset of familial IBSN varies between 7 months and 15 months, whereas sporadic IBSN can occur any time from the neonatal period through childhood and even in adolescence. Clinical features include choreoathetosis, dystonia, rigidity, spasticity, dysphagia, optic atrophy, intellectual deficit, developmental regression of motor and verbal skills, failure to thrive, myoclonus, quadriparesis, cerebellar ataxia and nystagmus. The familial form has an insidious onset and a slowly progressive downhill course, while the sporadic form is associated with abrupt neurologic dysfunction following an acute systemic febrile illness such as a mycoplasma, measles or streptococcus infection.
Etiology
Autosomal recessive IBSN is caused by mutation in the NUP62 gene (19q13.33) and mitochondrial IBSN is caused by mutation in the ATP synthase-6 gene (MTATP6).
Diagnostic methods
Diagnosis is based on clinical observation of choreoathetoid movements of the face, trunk and extremities and evidence of basal ganglia degeneration on CT and MRI images.
Differential diagnosis
Differential diagnoses include Wilson's disease, acute disseminated encephalomyelitis, neurodegeneration with brain iron accumulation, Leigh disease, juvenile Huntington chorea, methylmalonic aciduria, guanidinoacetate methyltransferase deficiency, glutaric acidemia I (see these terms), carbon monoxide intoxication, small vessel arteritis and trauma.
Antenatal diagnosis
Antenatal diagnosis and genetic counseling is offered to families of affected patients.
Genetic counseling
Familial IBSN can be inherited as an autosomal recessive or mitochondrial disorder.
Management and treatment
There is no standard therapy for familial IBSN. Treatment with oral biotin has been observed to slow disease progress initially. Treatment for the sporadic form is based on treatment of the causal infection.
Prognosis
Prognosis for the familial form is usually poor with patients progressing to spastic quadriparesis followed by death, usually due to infection. For the sporadic form, prognosis is variable, with either gradual improvement in symptoms and complete recovery, observed after recovery from the infection, or severe neurological sequelae.

                            Last update: 
                            March 2010


                            - Expert reviewer(s): 
                            Dr Rachel STRAUSSBERG
Infantile cerebellar-retinal degeneration (ORPHA:313850)
A rare, neurodegenerative disorder characterized by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration.
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly (ORPHA:402364)
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.
Infantile choroidocerebral calcification syndrome (ORPHA:1313)
A rare syndromic intellectual disability characterized by severe intellectual disability and calcification of the choroid plexus, associated with elevated cerebrospinal fluid protein concentration. Additional signs and symptoms include strabismus, increased deep tendon reflexes, and foot deformities, among others. There have been no further descriptions in the literature since 1993.
Infantile convulsions and choreoathetosis (ORPHA:31709)
Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence.
Epidemiology
This disorder is rare but the exact prevalence is unknown.
Clinical description
Benign familial infantile epilepsy begins at 3 to 12 months of age with a family history of the same type of seizures. Seizures are afebrile, partial or sometimes generalized, and normally disappear after the first year of life. During childhood or adolescence, affected individuals present with paroxysmal kinesigenic dyskinesia with frequent and recurrent episodic choreathetotic or dystonic movements that last less than 1 minute. The attacks are triggered by the initiation of voluntary movements or startle. The association with other paroxysmal disorders such as migraine, with or without aura, hemiplegic migraine, episodic ataxia and tics has also been described. Psychomotor development is normal.
Etiology
The genetic loci of ICCA syndrome have been described on chromosomes 16p11.2-q12.1, 16q13-q22.1 and 3q29-29. Mutations in the Proline-rich transmembrane protein 2 (PRRT2) gene, located on 16p11.2, have recently been found in families affected by ICCA syndrome. This gene encodes a membrane protein that interacts with the presynaptic protein SNAP-25 but the mechanism leading to the disease remains unknown.
Diagnostic methods
The diagnosis is mainly clinical, based on the appearance of infantile convulsions with benign evolution followed by kinesigenic dyskinesia attacks later on. Genetic testing confirms the diagnosis.
Differential diagnosis
Differential diagnosis includes other paroxysmal dystonias such as paroxysmal exertion-induced dyskinesia and paroxysmal non-kinesigenic dyskinesia (see these terms) triggered by drugs or food intake (such as caffeine and alcohol).
Genetic counseling
ICCA syndrome can present as sporadic or familial; in the latter case, it is transmitted as an autosomal dominant trait that can be variably expressed within the same family.
Management and treatment
Antiepileptic drugs, mainly phenytoin or carbamazepine, are effective in controlling seizures and dyskinesia during the active phase of the disorder.
Prognosis
ICCA has a good outcome. Without treatment, dyskinetic attacks tend to disappear during adulthood.

                            Last update: 
                            July 2013


                            - Expert reviewer(s): 
                            Pr Federico VIGEVANO
Infantile digital fibromatosis (ORPHA:199267)
A rare, benign, superficial fibromatosis characterized by firm, pinkish to flesh-colored, solitary or multiple nodular growths, typically less than 2 cm in size. They occur on the dorsal or lateral aspect of fingers and toes and have a tendency to recur. Histology reveals bland intradermal spindle cells with spherical perinuclear inclusion bodies.
Infantile dystonia-parkinsonism (ORPHA:238455)
Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.
Epidemiology
The prevalence is unknown. Only eight cases have been reported to date.
Clinical description
The disease presents soon after birth with irritability and feeding difficulties, followed by progressive parkinsonism (manifesting with resting tremor and bradykinesia), dystonia, axial hypotonia, limb hypertonicity and pyramidal tract signs. Clinically it can resemble cerebral palsy. Global developmental delay and impaired motor development occur during childhood, and patients can have trouble communicating. Treatment with L-dopa is ineffective, and death was reported in one case.
Etiology
IPD is caused by mutations in the SLC6A3 gene (5p15.33), which encodes a human dopamine transporter mediating the active reuptake of extracelluar dopamine. Mutations in this gene lead to a reduction in the level of mature dopamine transporter and therefore an impairment in dopaminergic neurotransmission.
Genetic counseling
IPD is inherited in an autosomal recessive manner. Genetic counseling is possible and is recommended.

                            Last update: 
                            November 2013


                            - Expert reviewer(s): 
                            Dr Christoph KAMM
Infantile epileptic-dyskinetic encephalopathy (ORPHA:364063)
A rare monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability.
Infantile glycine encephalopathy (ORPHA:289860)
Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures.
Epidemiology
The prevalence of infantile glycine encephalopathy is not known. Infantile cases are less frequent than the classical neonatal form of GE (neonatal GE; see this term).
Clinical description
Patients present with infantile-onset seizures and variable psychomotor delay after initially normal development, and often have a relatively long history of hypotonia. Seizures of any type are found in less than half of patients and some develop choreoathetosis. Developmental delay mostly affects language and behavioral problems are sometimes found including temper tantrums, irritability, aggressiveness and rage. Attention deficit-hyperactivity disorder (AD-HD) is also sometimes found. Patients do not have lethargy or coma in the neonatal period, unlike those with neonatal GE. The course may be mild or severe (50% of patients in each case).
Etiology
Mutations in two genes are known to cause glycine encephalopathy: GLDC (9p22) and AMT (3p21.2-p21.1).
Genetic counseling
Infantile GE is inherited in an autosomal recessive manner.

                            Last update: 
                            September 2012


                            - Expert reviewer(s): 
                             Shigeo KURE
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency (ORPHA:352563)
A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.
Infantile hypophosphatasia (ORPHA:247651)
A rare, severe, genetic form of hypophosphatasia (HPP) characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization.
Epidemiology
The prevalence is not known. About 160 cases have been reported to date.
Clinical description
Individuals with infantile-HPP may be normal at birth. Clinical signs resembling rickets are generally found between birth and six months of age. Initial manifestations may include irritability, poor feeding, failure to thrive, hypotonia, and more rarely seizures. Other clinical features include growth failure, short stature, blue sclerae, bone hypomineralization (softening or thinning of the skull, rachitic ribs, scoliosis, thickening of wrists and ankles and bowing of long bones), craniosynostosis (possibly with increased intracranial pressure), lax ligaments, and hypercalciuria/hypercalcemia. Some patients have premature loss of deciduous teeth. Kidney damage (nephrocalcinosis due to hypercalciuria) is reported in some older infants. Severity is variable but many affected patients are at risk of respiratory failure due to rachitic deformities of the chest within the first year of life. There may be some clinical overlap with the moderate form, classed as childhood-onset HPP.
Etiology
Loss-of-function mutations in the ALPL gene (1p36.12) are known to cause hypophosphatasia. Most patients with the infantile form have two ALPL mutations.
Diagnostic methods
Diagnosis is based on clinical examination, alkaline phosphatase assay and genetic testing.
Differential diagnosis
The main differential diagnosis is osteogenesis imperfecta.
Antenatal diagnosis
Although not typically picked up in ultrasound, there is evidence to suggest affected individuals may present prenatally with radiographic findings of limb bowing, limb shortening and/or skeletal hypomineralization. Genetic prenatal diagnosis may be offered to at risk pregnancies where the genetic mutation has been previously identified in an affected family member.
Genetic counseling
An autosomal recessive pattern of inheritance is mostly reported. Few cases may be dominantly inherited. Genetic counseling should be offered to affected families. Currently, there is no identified geno-phenotype relationship and individuals inheriting a pathogenic mutation may express any form of HPP (perinatal lethal to odontoHPP).
Management and treatment
Asfotase alfa is approved (Europe and USA) for enzyme replacement therapy (ERT) in patients with pediatric-onset hypophosphatasia and is associated with healing of the skeletal manifestations of hypophosphatasia as well as improved respiratory and motor function.
Prognosis
Prognosis depends on the organs affected and timely intervention. Currently there is no data on the long term prognosis when treated with ERT.

                            Last update: 
                            February 2020


                            - Expert reviewer(s): 
                            Dr Severine BACROT  - Dr Etienne MORNET
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
A rare genetic neurological disorder characterized by infantile hypotonia, congenital ophthalmic anomalies (including strabismus, esotropia, nystagmus, and central visual impairment), global developmental delay and intellectual disability, behavioral abnormalities, and movement disorder (such as dystonia, chorea, hyperkinesia, stereotypies). Mild facial dysmorphism and skeletal deformities have also been reported. EEG testing shows marked abnormalities in the absence of overt epileptic seizures.
Infantile inflammatory bowel disease with neurological involvement (ORPHA:565788)
A rare genetic disease characterized by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhea and failure to thrive, and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia, and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination, and posterior leukoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation, as well as decreased T-cell subsets, have been reported.
Infantile LAD-like disease due to RAC2 deficiency (ORPHA:183707)
Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.
Epidemiology
Prevalence is unknown but, to date, two cases have been reported.
Clinical description
Neutrophil immunodeficiency syndrome presents as similar to leukocyte-adhesion deficiency (LAD; see this term), however there is no evidence of deficiency in the CD11b/CD18 complex.
Etiology
The disease is due to a point dominant negative mutation in the RAC2 gene causing decreased Rac2 protein expression and a defect in a signaling pathway controlling shape change/motility of neutrophils as well as assembly and activation of NADPH oxidase.
Genetic counseling
The mode of transmission is unknown.

                            Last update: 
                            March 2010


                            - Expert reviewer(s): 
                            Dr Daniel AMBRUSO
Infantile mercury poisoning (ORPHA:247165)
Infantile mercury poisoning is a rare intoxication affecting children, most commonly characterized by erythema of the hands, feet and nose, edematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paresthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss and insomnia.
Infantile multisystem neurologic-endocrine-pancreatic disease (ORPHA:456312)
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, postnatal microcephaly, intellectual disability, ataxia, sensorineural hearing loss, and exocrine pancreatic insufficiency. More variable manifestations include hypotonia, growth retardation, peripheral demyelinating neuropathy, dysmorphic facial features, and additional endocrine abnormalities. Brain imaging may show progressive cerebellar atrophy in some patients.
Infantile nephropathic cystinosis (ORPHA:411629)
A subtype of cystinosis characterized by an accumulation of cystine in the organs and tissues, particularly in the kidneys and eyes, and that clinically manifests from infancy with renal Fanconi syndrome, photophobia, hypothyroidism, impaired growth and rickets, in addition to various other systemic effects. Progressive extra-renal manifestations include hypothyroidism, hypogonadism and male infertility, insulin-dependent diabetes, hepatosplenomegaly with portal hypertension, muscle involvement with distal muscle weakness and atrophy, pharyngeal and oral dysfunction, swallowing difficulties, cerebral involvement with hypotonia, speech and walking difficulties, and cerebellar syndrome.
Infantile onset panniculitis with uveitis and systemic granulomatosis (ORPHA:251304)
A rare granulomatous autoinflammatroy syndrome characterized by infantile-onset, widespread, chronic, recurrent, progressive, lobular panniculitis associated with panuveitis, arthritis and severe systemic granulomatous inflammation.