The authors obtained written consent from the patient's father. Review and Critique.Įthical Compliance Statement: The authors confirm that the approval of an institutional review board was not required for this work. The authors acknowledge the patient and his family members for consenting to participate in this study. In conclusion, this case demonstrates the importance of gelastic cataplexy as an important clue in diagnosis of NPC especially when accompanied by VSGP. In NPC, the accumulation of lipid-storage products in the nervous system might affect the hypocretin-producing cells in the hypothalamus, reducing its level. 3 This most likely reflects the general suppression of REM sleep by this class of medications attributed to activation of monoaminergic pathways.Īdditionally, hypocretin excites motor neurons and helps to maintain muscle tone by activating the monoaminergic pathway. Treatment of cataplexy by tricyclic antidepressants is often successful. 4Ĭataplexy is thought to represent brief episodes of REM sleep paralysis during wakefulness and probably involves the same neural networks that generate normal muscle atonia in REM sleep. It is commonly a component of the narcoleptic syndrome alongside daytime sleepiness, sleep paralysis, and vivid hallucinations at the beginning and end of sleep. 3Ĭataplexy reflects a rapid eye movement (REM)-sleep-related phenomenon involving multiple neurotransmitter systems which regulate sleep and postural muscle tone. 1, 2 Gelastic cataplexy is observed in almost 50% of all patients with NPC and may develop during the course of the disease or rarely be the presenting symptom. Gelastic cataplexy and VSGP are specific signs of NPC. Clinical presentation of NPC is impressed by age at disease onset, with more common cortical signs (cognitive impairment and psychosis) in adult-onset cases. 2 Its clinical features encompass a combination of visceral, neurological (movement disorders, cerebellar ataxia, seizure, and cognitive impairment), and psychiatric signs and symptoms. It is caused by mutations in either the NPC1 (in approximately 95% of cases) or the NPC2 gene. NPC is a rare, autosomal-recessive lysosomal storage disorder with a prevalence of 1:100,000 live births. Routine blood tests, EEG, and brain MRI were normal. He had a VSGP (Video 2) and mild dystonic posture in the neck and extremities with limb and gait ataxia (Videos 3 and 4). Speech was unintelligible because of severe dysarthria. On neurological examination, he was alert and could follow simple commands. Physical examination revealed splenomegaly. During the last year, he had episodes of generalized atonia without loss of consciousness, triggered by laughing (gelastic cataplexy Video 1). He also developed abnormal postures in the neck and limbs. He was well and had a normal birth and development up to age 10, when deterioration in cognitive function and gait impairment began. CaseĪ 14-year-old boy presented to us with movement disorder, mental decline, and gait disturbance. Herein, we report on a case of NPC with typical episodes of gelastic cataplexy with video documentation. Gelastic cataplexy and vertical supranuclear gaze palsy (VSGP) are classical features of Niemann Pick type C (NPC) disease. When cataplexy is triggered by laughter, the term “gelastic” is utilized. Cataplexy delineates a brief episode of generalized loss of muscle tone without alteration in consciousness.
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