ABSTRACT
AIM: To report one patient with slowly progressive encephalopathy, ataxia, central hypomyelination, hypodontia and hypogonadotropic hypogonadism, the 4H syndrome. This clinical picture has been described recently and there are only four patients reported previously. CASE REPORT: A girl with a previously normal early psychomotor development, presented a slowly progressive deterioration since 15 months of age. Now, she is 14 years old, and has a severe cerebellar ataxia, with tremor and dysmetria. She can't neither walk nor remain standing alone. She has lost the sphincter control and has an immature expressive language. She has no puberal development and definitive hypodontia of upper central incisors. The brain magnetic resonance imaging shows a diffuse hypomyelination, that is confirmed with diffusion and spectroscopy studies. CONCLUSION: The hypomyelinating leukoencephalopathies are disorders with abnormally low amount of myelin. The diagnosis is difficult in most of the patients. The hypomyelinating leukoencephalopathies include classic disorders and new leukoencephalopathies, described in the past few years.
Subject(s)
Anodontia/diagnosis , Demyelinating Diseases/diagnosis , Hypogonadism/diagnosis , Adolescent , Female , Humans , SyndromeABSTRACT
Objetivo. Presentar el caso de una paciente con un cuadro de encefalopatía lentamente progresiva, con ataxia, hipomielinización central, hipodontia e hipogonadismo hipogonadotropo, síndrome 4H, de reciente descripción, del que sólo hay publicados cuatro casos en la bibliografía. Caso clínico. Niña de 14 años que, tras un desarrollo psicomotor normal hasta los 15 meses de edad, presentó un deterioro neurológico lentamente progresivo. En la actualidad, a los 14 años de edad, presenta una importante ataxia cerebelosa, que le impide la deambulación y la bipedestación sin apoyo, temblor y dismetría. Ha perdido el control de los esfínteres y presenta un lenguaje escaso, construyendo frases de un máximo de dos palabras con una comprensión verbal aceptable. Presenta una ausencia completa de caracteres sexuales secundarios e hipodontia definitivade los incisivos centrales superiores. La resonancia magnética cerebral muestra una hipomielinización difusa, que se confirma con los estudios de difusión y espectroscopia. Conclusiones. Las leucodistrofias hipomielinizantes, con defecto en la producción de mielina, suponen un reto diagnóstico para el clínico. Además de las enfermedades clásicas con hipomielinización central difusa, se han descrito en los últimos años algunas nuevas leucoencefalopatías con hipomielinización
Aim. To report one patient with slowly progressive encephalopathy, ataxia, central hypomyelination, hypodontia and hypogonadotropic hypogonadism, the 4H syndrome. This clinical picture has been described recently and there are only four patients reported previously. Case report. A girl with a previously normal early psychomotor development, presented a slowly progressive deterioration since 15 months of age. Now, she is 14 years old, and has a severe cerebellar ataxia, withtremor and dysmetria. She cant neither walk nor remain standing alone. She has lost the sphincter control and has an immature expressive language. She has no puberal development and definitive hypodontia of upper central incisors. The brain magnetic resonance imaging shows a diffuse hypomyelination, that is confirmed with diffusion and spectroscopy studies.Conclusion. The hypomyelinating leukoencephalopathies are disorders with abnormally low amount of myelin. The diagnosis is difficult in most of the patients. The hypomyelinating leukoencephalopathies include classic disorders and new leukoencephalopathies, described in the past few years
Subject(s)
Humans , Female , Adolescent , Hereditary Central Nervous System Demyelinating Diseases/physiopathology , Cerebellar Ataxia/physiopathology , Anodontia/etiology , Hypogonadism/etiology , Dementia, Vascular/physiopathologyABSTRACT
El anís estrellado se utiliza en lactantes y niños pequeños por sus propiedades eupépticas. Su administración en altas dosis puede llegar a desencadenar cuadros de toxicidad neurológica. Presentamos un caso de posible intoxicación por anís estrellado, en el que predominaba la sintomatología neurológica. Se realizó una detallada anamnesis, exploración fisica y pruebas complementarias, y sólo se encontró el antecedente de ingestión de anís estrellado en dosis superiores a las recomendadas (AU)
