art. 1.4470
European Review for Medical and Pharmacological Sciences

2016; 20: 498-501

Drop episodes improved after tracheotomy: a caseof Coffin-Lowry syndrome associated withobstructive sleep apnea syndrome
G. IMATAKA1, I. NAKAJIMA2, K. GOTO2, W. KONNO2,H. HIRABAYASHI2, O. ARISAKA1
1

Department of Pediatrics, Dokkyo Medical University School of Medicine, Tochigi, Japan
Department of Otorhinolaryngology, Head and Neck Surgery, Dokkyo Medical University Schoolof Medicine, Tochigi, Japan

2Abstract. – Some cases of Coffin-Lowry syndrome recognized episodic drops and it tended
to be intractable for medical treatment. We reported here a patient with the Coffin-Lowry syndrome associated with obstructive sleep apnea
syndrome (OSAS). The patient had epileptic
seizures and drop attacks only during night-timeand it was not recognized during the daytime.
His sleep-induced electroencephalogram wasnormal. At 12-years old of his age, his OSAS
was worse, so we performed a tracheotomy. Notably after the operation, his epileptic episodes
were disappeared.
Key Words:
Epilepsy, Convulsion, RSK2, RPS6KA3, OSAS.

Introduction
Coffin-Lowry syndrome (CLS) was first reported independently by Coffin et al1 and Lowry
et al2 and established as a novel syndrome byTemtany et al3. CLS is an X-linked semi-dominant condition with dysmorphism, mental retardation, more severe in affected males than females due to mutations in the RSK2 protein kinase gene4 which was encoded ribosomal protein
S6 kinase alpha 35-8, partially related to epigenetic condition9 and other reasons10. Clinically problematic manifestations of CLS were mainly cardiovascular system11,12 and epileptic-like recurrent drop attack episodes4.
We report herein a clinical case of CLS associated obstructive sleep apnea syndrome(OSAS)13 whose epileptic drop attacks were disappeared after operated with a tracheotomy.
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Case Report
This boy is the third-born child of non-consanguineous Japanese parents. At the time ofbirth, the mother was 27 and father 33 years
old. There was no history of miscarriage and nomajor family history. He was born at 38 weeks
gestation by normal vaginal delivery following
spontaneous rupture of membranes. His Apgar
score was 9 point at 1 minute. Birth weight andtall were 2014 g and 47.0 cm, respectively. His
developmental milestones were turn-over at 6months, sitting at 10 months and walking at 20months. He could not say meaningful words.
The intellectual and developmental delay wasrecognized, and he took G-banding congenital
chromosomal examination, which was normal
karyotype with 46, XY. Before 2-years old, herevealed complex febrile seizure with 5 times.
Electroencephalogram and brain MRI exhibited
normal findings. He started rehabilitation at 3years. At 4-years of his age, he underwent to theexamination of the neuro-pediatrician, and he
was clinically diagnosed with CLS. After theage of 10 years, he tended to develop sleep disturbance because of sleep apnea during thenight. He also often slept during daytime. Moreover, generalized tonic seizure with dyspnea
lasting few minutes happened several times followings sleep apnea. He tends to recognizedepileptic-like drop attack episodes during daytime. Therefore, he was visited at our hospital
to consultation both seizures and sleep apnea
situation at 12-years of his age. His tall stature
was 139 cm and weighting 29 kg. Facial expression showed distant eyes, thick lips, small teeth,small jaw, large tonsils and ears protruding. His

Corresponding Author: George Imataka, MD; e-mail: geo@dokkyomed.ac.jp

Coffin-lowry syndrome with sleep apnea syndrome
Figure 1. Facial expression of the patient.

hand is soft with big maple like shape. Fingers
are fine-tipped shape. His personality is calmand often laughing (Figure 1). Sleep induced
recorded electroencephalogram showed normal
record. Sleep apnea monitoring test was performed and frequently developed sleep apnea
over continue a 20 seconds. During episodes ofsleep apnea, the monitoring of the oxygen saturation revealed that the level was below 80%(Figure 2).
His sleeping condition recognized tongue basesubsidence. He was also diagnosed with CLS associated with obstructive sleep apnea syndrome(OSAS). We consulted the otolaryngologist andhe recommended tracheostomy. After the operation, OSAS was improved and his drop attacks
were disappeared over the 5 years observation
with no anti-epileptic medication.

Discussion
It is well known that some movement disorders, behavioral abnormalities, hyperreflexia, cataplexy, startle reaction, startle epilepsy, and stimulus-induced drop episodes occur in CLS14-16.

Figure 2. Sleep apnea monitoring during midnight of the patients.

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G. Imataka, I. Nakajima, K. Goto, W. Konno, H. Hirabayashi, O. Arisaka

Epileptic-like drop attacks tended to be intractable in CLS and considering some kind oftreatment to this condition17,18. Moreover, approximately 5% of CLS associated epilepsy andGschwind et al16 reported a non-convulsive typeof status epilepticus in CLS. Among these symptoms, epilepsy like drop episodes were stimulusinduced occurred and this mechanism was agued
similar to another type of unusual startle response20. Overall, treatment for these attacks in
CLS is not established.
Our patient with CLS who has epileptic
seizures and drop attacks was associated with
OSAS and the patient’s attacks disappeared after
having performed tracheotomy. Wyler et al21 reported that treating the sleep apnea with permanent tracheotomy improved his generalized
seizures in patients with OSAS-associatedepilepsy. OSAS was well developed among thechild patient with neurologically-impaired22,23
who had micro-jaw.

Conclusions
In this patient’s clinical course, the tracheotomy produced good effects to his epileptic symptom. It was observed that the mechanisms forboth drop attacks and epilepsy occur in patientswith CLS associated with OSAS.
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Conflict of Interest

The Authors declare that they have no conflict of interests.

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