RESUMENEl síndrome de Angelman es un trastorno neurogenético debido a la falta o reducción en la expresión del gen UBE3A en el cromosoma 15, el cual codifica la proteína ubiquitina ligasa E3A, que tiene un papel integral en el desarrollo sináptico y la plasticidad neuronal. Se manifiesta por retraso en el neurodesarrollo o discapacidad intelectual, comportamiento característico y epilepsia. Se describen las características clínicas de siete pacientes con deleción del cromosoma 15q11-13 y su manejo integral. Por la expectativa de vida, es importante conocer y manejar las comorbilidades de forma interdisciplinaria para lograr mejorar la calidad de vida de los afectados. Se realiza una revisión de la literatura sobre la aproximación integral al diagnóstico y cuidado clínico a largo plazo de los pacientes con síndrome de Angelman. Palabras clave: síndrome de Angelman, cromosoma 15q11-13, UBE3A, niño, impronta molecular. ABSTRACTAngelman syndrome is a neurogenetic disorder caused by a lack or reduction of expression of UBE3A located within chromosome 15, which codes for ubiquitin protein ligase E3A, which has a key role in synaptic development and neural plasticity. Its main features are developmental delay/intellectual disability, lack of speech, a characteristic behavioural profile, and epilepsy. We describe clinical features and management of seven cases with 15q11-13 deletion. Due to their life expectancy, knowing and managing its comorbidities is crucial to improve their quality of life. We review the diagnosis and long-term clinical care of patients with Angelman syndrome.

A Westphal variant of Huntington's disease (HD) is an infrequent presentation of this inherited neurodegenerative disorder. Here, we describe a 14-year-old girl who developed symptoms at the age of 7, with molecular evidence of abnormally expanded Cytosine-Adenine-Guanine (CAG) repeats in exon 1 of the Huntingtin gene. We briefly review the classical features of this variant highlighting the importance of suspecting HD in a child with parkinsonism and a family history of movement disorder or dementia.

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A 10-year-old girl presented with a 15-day history of excessive daytime sleepiness and sudden sleep onset, hypnagogic hallucinations, hyporexia, and behavioral changes. Brain MRI revealed a bilateral hypothalamic lesion (Figure 1). We found positive AQP4-IgG antibodies in serum and low hypocretin levels (93 pg/mL) in cerebrospinal fluid. A diagnosis of narcolepsy secondary to neuromyelitis optica spectrum disorder was made. She improved after glucocorticoid administration. After 10 months of immunosuppressive maintenance therapy with azathioprine, she remains asymptomatic without new lesions in the follow-up neuroimages. Any diencephalic clinical syndrome, such as narcolepsy, with hypothalamic involvement, should prompt a serum test for AQP4-IgG (1,2).Teaching Slides -http://links.lww.com/WNL/C191