Rapidly progressive and fatal neurocutaneous melanosis presenting as recurrent headache.

Neurocutaneous melanosis is an extremely rare disease characterized by large or multiple congenital melanocytic nevi and benign or malignant proliferation of melanocytes in the central nervous system. Neurological manifestations usually develop during the first three years of life and the prognosis of patients with NCM who manifest neurological symptoms is very poor. Here we describe a 9-year-old girl who manifested neurological symptoms caused by communicating hydrocephalus and died of proliferation of melanocytes in the central nervous system 11 months after the initial symptoms.

[A supratentorial primitive neuroectodermal tumor exhibiting pathological characteristics of medulloepithelioma: a case report].

A 50-year-old female presented with headache symptoms and left hemifacial paresis. Brain computed tomography and magnetic resonance images demonstrated a right frontal lobe tumor with hemorrhage and calcification. A gross total resection was carried out.

A case of late-onset Segawa syndrome (autosomal dominant dopa-responsive dystonia) with a novel mutation of the GTP-cyclohydrase I (GCH1) gene.

We report a case of a 46-year-old Japanese woman with hereditary progressive dystonia with marked diurnal fluctuations and dopa-responsive dystonia (HPD/DRD). She developed difficulty in walking at the age of 44 years due to bradykinesia as well as hand tremors, muscle rigidity, increased tendon reflexes and mild dystonia in the lower extremities, all of which responded remarkably to low doses of levodopa (150 mg/day). Biopterin and neopterin concentrations in the cerebrospinal fluid (CSF) were decreased.

[A case of bilateral lower pons-medial medullary infarction presenting quadriparesis].

Bilateral medial medullary infarction is rare. Only 18 cases have been reported previously. We experienced a case of the bilateral lower pons-medullary infarction.