A 4-year-8-month old school-going boy, presented
with complaints of excessive daytime sleepiness and
intense urge to sleep for last one year, and drop attacks for
last six months. There was no significant family history of
seizures or neurological disorder. In view of recurrent/
persistent symptoms, he was extensively evaluated for
seizure disorder/epilepsy syndrome/Wilson’s disease. In
view of inconclusive results and persistent symptoms, he
was started on anti-epileptics but later referred to us due
to persistence of symptoms.
On examination, he was neuro-developmentally
normal with both general physical and systemic
examination with in normal limits. During conversation
with the parents, the child not only had intense urge to
sleep but also had a drop attack. Considering the
symptoms and chronicity of presentation in otherwise
developmentally normal child, a provisional diagnosis of
narcolepsy with cataplexy was considered. Child
underwent a nocturnal polysomnography (PSG) followed
by daytime multiple sleep latency test (MSLT). Nocturnal
PSG was within normal limits and MSLT showed, a mean
sleep latency of 4 minutes with average REM latency of
1.4 minutes, thus diagnostic of Narcolepsy. A genetic test
(HLA B1*0602) to support the diagnosis was positive,
thus confirming the diagnosis. He was treated with Modafanil (50 mg/day) with good clinical response with respect to both excessive daytime sleepiness and cataplexy. Patients with narcolepsy are usually initially investigated for epilepsy, encephalopathy, and psychiatric disease [3,4]. A lack of awareness of the condition, delay in symptom recognition and absence of all the characteristic features are the primary reason for missed diagnosis of narcolepsy in children [3,4]. Administering daytime MSLT after overnight PSG is the primary modality of choice for diagnosis of narcolepsy [3,5]. Presence of both: (a) a mean sleep latency (MSL) of <8 minutes and (b) two or more sleep onset REM periods (SOREMPs) on MSLT performed after at least six hours of sleep during the previous night confirms the diagnosis [3,5]. Management of narcolepsy is multimodal and involves Sleep hygiene, frequent daytime naps, Diet recommendations, Medications, and Caregiver counseling. Though lifestyle modifications are important in management, medical treatment is the cornerstone and should be initiated as early as possible after confirming the diagnosis.
thus confirming the diagnosis. He was treated with Modafanil (50 mg/day) with good clinical response with respect to both excessive daytime sleepiness and cataplexy. Patients with narcolepsy are usually initially investigated for epilepsy, encephalopathy, and psychiatric disease [3,4]. A lack of awareness of the condition, delay in symptom recognition and absence of all the characteristic features are the primary reason for missed diagnosis of narcolepsy in children [3,4]. Administering daytime MSLT after overnight PSG is the primary modality of choice for diagnosis of narcolepsy [3,5]. Presence of both: (a) a mean sleep latency (MSL) of <8 minutes and (b) two or more sleep onset REM periods (SOREMPs) on MSLT performed after at least six hours of sleep during the previous night confirms the diagnosis [3,5]. Management of narcolepsy is multimodal and involves Sleep hygiene, frequent daytime naps, Diet recommendations, Medications, and Caregiver counseling. Though lifestyle modifications are important in management, medical treatment is the cornerstone and should be initiated as early as possible after confirming the diagnosis.
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