[West syndrome as an epileptic presentation in Menkes' disease. Two cases report]. / Síndrome de West como manifestación epiléptica de enfermedad de Menkes. Presentación de dos casos.

INTRODUCTION: Menkes' disease is a neurodegenerative disorder, recessive X chromosome linked (Xp13.3) that normally codify an ATPasa copper transporter. CASE REPORTS: Case 1: patient exhibit failure in the gastrointestinal copper absorption, which is insufficient to cover the needing during the first twelve months of life. The first case was a 5 months male. His developmental skills were normal until he was 5 months old, when he exhibited visual impairment and failure to continue getting normal developmental skills. One month later he had infantile spasms and hypsarrhythmia in the EEG. He had kinky hair, alopecia zones and copper serum level in 0 microg/dL (range 590-1,180 microg/dL) brain CT scan revealed diffuse cortical atrophy. The patient is 5 years old now, he is free of seizures but he has a severe neurological impairment. Case 2: he is a 7 months old male who developed during the two days of life hypotonia and weak suction. He exhibited later hypertonia, delayed neurological development and infantile spasms, microcephaly, kinky hair, blindness and EEG pattern of hypsarrhythmia. The serum copper level was 84 microg/dL (range: 590-1,180 microg/dL). The brain CT scan showed generalized atrophy, including cerebellum, extradural effusion and MRI with multiple infarcts in different stages. Electronic microscopy revealed pili torti. In both cases the diagnosis was suspected because of the hair and eyebrow features. CONCLUSIONS: We suggest a careful hair and eyebrow clinical exam in those patients with delayed milestones and early epilepsy without a documented etiology, and the copper serum level determination in those patients with suspected disease.

Síndrome de West como manifestación epiléptica de enfermedad de Menkes. Presentación de dos casos / West syndrome as an epileptic presentation in menkes'disease. Two cases report

Introducción. La enfermedad de Menkes es una patología neurodegenerativa recesiva ligada al cromosoma X (Xp13.3), que normalmente codifica una ATPasa transportadora de cobre. Casos clínicos. Caso 1: varón de 5 meses de edad que presenta un déficit en la absorción de cobre a través del intestino que le impide cubrir sus necesidades durante los doce primeros meses de vida. Sus habilidades evolutivas fueron normales hasta los 5 meses de edad, cuando manifestó trastornos visuales y se interrumpió la adquisición de las habilidades evolutivas. Un mes después presentó espasmos infantiles e hipsarritmia en el EEG. Tenía el cabello ensortijado, zonas de alopecia y nivel sérico de cobre de 0 µg/dL (intervalo: 590-1.180 µg/dL). Un estudio por tomografía computarizada cerebral mostró atrofia cortical difusa. Ahora el paciente tiene 5 años, está libre de crisis pero tiene un deterioro neurológico grave. Caso 2: varón de 7 meses de edad que desarrolló hipotonía y succión débil durante los dos primeros días de vida. Más adelante manifestó hipertonía, desarrollo neurológico retrasado y espasmos infantiles, microcefalia, cabello ensortijado, ceguera y patrón EEG de hipsarritmia. El nivel sérico de cobre fue de 84 µg/dL (intervalo: 590-1.180 µg/dL). El estudio por tomografía computarizada cerebral reveló atrofia generalizada con afectación del cerebelo, derrame extradural e imágenes de resonancia magnética con múltiples infartos en diferentes etapas de su evolución. Una exploración mediante microscopía electrónica reveló la existencia de pili torti. En ambos casos, las características que presentaban el cabello y las cejas llevaban a sospechar este diagnóstico. Conclusiones. Sugerimos que se realice una exploración meticulosa del cabello y de las cejas ante cualquier paciente con retraso en el desarrollo y epilepsia precoz sin etiología documentada, y la determinación del nivel sérico de cobre ante la sospecha de esta enfermedad (AU)

Introduction. Menkes’ disease is a neurodegenerative disorder, recessive X chromosome linked (Xp13.3) that normally codify an ATPasa cupper transporter. Case reports. Case 1: patient exhibit failure in the gastrointestinal cupper absorption, which is insufficient to cover the needing during the first twelve months of life. The first case was a 5 months male. His developmental skills were normal until he was 5 months old, when he exhibited visual impairment and failure to continue getting normal developmental skills. One month later he had infantile spasms and hypsarrhythmia in the EEG. He had kinky hair, alopecia zones and cupper serum level in 0 µg/dL (range: 590-1,180 µg/dL) Brain CT scan revealed diffuse cortical atrophy. The patient is 5 years old now, he is free of seizures but he has a severe neurological impairment. Case 2: he is a 7 months old male who developed during the two days of life hypotonia and weak suction. He exhibited later hypertonia, delayed neurological development and infantile spasms, microcephaly, kinky hair, blindness and EEG pattern of hypsarrhythmia. The serum cupper level was 84 µg/dL (range: 590-1,180 µg/dL). The brain CT scan showed generalized atrophy, including cerebellum, extradural effusion and MRI with multiple infarcts in different stages. Electronic microscopy revealed pili torti. In both cases the diagnosis was suspected because of the hair and eyebrown features. Conclusions. We suggest a careful hair and eyebrown clinical exam in those patients with delayed milestones and early epilepsy without a documented etiology, and the cupper serum level determination in those patients with suspected disease (AU)