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. Serum and cerebrospinal fluid 5-S-CD levels could be a useful marker of disease progression, even in patients with NCM without apparent malignant findings at initial biopsy.

[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. Pathologically, the tumor exhibited three kinds of structures. The first was an astrocytic area which occupied the large part of this tumor. Small, round cells, which were positive for glial fibrillary acidic protein, were randomly distributed. The second was an epithelioid area with the highest MIB-1 labeling index of the three structures. Undifferentiated tumor cells demonstrated a dense proliferation, and short spindle-shaped cells exhibited an epithelial and a partly luminal alignment that resembled the embryonal neural tube. The third was a sarcomatoid area. Long spindle-shaped cells, which were positive for vimentin, were in a bundle-like form. We diagnosed this tumor as a primitive neuroectodermal tumor (PNET) with epithelial differentiation. PNETs are rare brain tumors with a predominance in children. Histologically, undifferentiated tumor cells demonstrate dense proliferations. The tumor arises from germinal matrix cells that differentiate into neuronal, glial, and ependymal cells. Medulloepithelioma, which is classified in the PNET category, is a very rare brain tumor that usually develops in childhood. Pathological studies have demonstrated that papillary, tubular, or trabecular arrangements of neoplastic neuroepithelium mimic the embryonic neural tube predominantly. In our case, the tumor partly demonstrated epithelial differentiation, which is a feature of medulloepithelioma, not only glial and mesenchymal differentiation. This is a rare case of PNET with uncommon histological features.

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. Analysis of the guanosine 5'-triphosphate cyclohydrolase I (GCH1) gene revealed a novel mutation (W53X) in one allele. The GCH1 activity that was expressed in mononuclear blood cells was almost half the normal value (usually 2-20% of the normal value (39.0+/-9.2 pmol/ml) in patients with HPD/DRD). The relatively conserved GCH1 activity that is expressed in stimulated peripheral blood mononuclear cells may be related to the late clinical symptoms in this patient.

[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. A 63-year-old woman was admitted to our hospital because of moderate left hemiparesis. Hyperreflexia in left limbs and positive Babinski's reflex in left foot was observed. Sensory disturbance was mild left hemihypesthesia (in light touch, postural sense and vibration) without facial involvement. She also had lateral gaze nystagmus, dysarthria, and bilateral decreased gag reflex. Respiratory failure was not observed. A conservative therapy for cerebral infarction was performed. But the hemiparesis was deteriorated and progressed to complete quadriparesis on the 5th day. The brain MRI (T2-weighted image and FLAIR) demonstrated bilateral lower pons-medial medullary infarction on the 9th day. Cerebral angiography and 3D-CT angiography revealed no stenosis or occlusions in the major cerebral arteries. The anterior spinal artery was not evaluated enough because of the arteriosclerosis. The prognosis of this patient was favorable except for the quadriparesis. The severe quadriparesis has not been improved for about 2 years. The bilateral medial medullary infarction was quite rare in the literature. The prognoses of these cases were unfavorable for the respiratory failure. Our case was not fatal because of no respiratory paralysis.