[A woman with cerebellar ataxia and hypergonadotropic hypogonadism].

A 26-year-old woman with primary amenorrhea in association with hypergonadotropinism, and lacking a vagina and uterus, suffered from a gradually progressive gait disturbance in her adolescence. The patient has no family history of ataxia and a chromosome study showed a normal karyotype (46,XX). Using the revised Hasegawa Dementia Scale, her cognitive function was measured as that of a normal adult, however, neurological examination revealed symptoms of scanning speech, horizontal gaze-evoked nystagmus, and ataxia.

Decreased chloride levels of cerebrospinal fluid in patients with amyotrophic lateral sclerosis.

Recent studies have suggested that the elevation of intracellular chloride contributes to excitotoxic cell death in motor neuron and can be related to the pathogenesis of amyotrophic lateral sclerosis (ALS). We investigated whether chloride levels in cerebrospinal fluid (CSF) and serum were lower in ALS patients than in control patients with other neurological diseases (OND). We also examined the relationship between chloride levels and clinical ALS phenotypes.

[Chronic inflammatory demyelinating polyradiculoneuropathy and hyponatremia in a patient with chronic graft versus host disease].

A 54-year-old woman, who was treated with chemotherapy for acute lymphoblastic leukemia, developed dysesthesia in her hands and feet at the age of 50 in 2003. The following year she underwent hematopoietic stem cell transplantation. In 2005, she was diagnosed with chronic graft versus host disease (cGVHD).