[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. Bulging eyes, high-arched palate, scoliosis and ventricular septal defect were also observed. A brain MRI showed atrophy of the cerebellum. A 123I-IMP brain SPECT study showed hypoperfusion in the cerebellum. Previous studies show that among patients with cerebellar ataxia and hypergonadotropic hypogonadism, some show an autosomal recessive inheritance, while others have no family history. As a cause, a chromosomal abnormality is unlikely because all reported karyotypes were normal. This case is different from other reported cases in that she is not mentally impaired or deaf. The present case indicates that there is a close relationship between cerebellar ataxia and hypogonadism, and that other symptoms such as deafness and mental impairment could be an additional variable in patients with cerebellar ataxia arid hypergonadotropic hypogonadism.

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. We measured chloride levels (CSF and serum) in 27 ALS patients and 33 age- and gender-matched OND controls admitted to our hospital for diagnosis. The CSF chloride levels were lower in ALS patients (117 [range 102-130] mmol/L) than in OND controls (126 [range 114-134] mmol/L) (P<0.0001). However, no significant difference was found in their serum chloride levels (P>0.05). There was no significant difference in CSF chloride levels among the sub-groups of ALS patients classified according to their age, gender, duration of illness, clinical state and type of onset (P>0.05). CSF chloride levels already significantly decreased in ALS patients at the time of diagnosis. We conclude that the elevation of intracellular chloride would cause the reduction of chloride in CSF and be related to the pathogenesis of ALS.

[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). In December 2006, she developed dysesthesia in her face and tongue (onset). 50 days after the onset, she had a respiratory infection. 10 days later, she was hospitalized for muscle weakness of four extremities and progression of dysesthesia. Nerve conduction studies and superficial peroneal nerve biopsy revealed demyelination. After high-dose immunoglobulin therapy, her muscle strength recovered. Hyponatremia was resolved by restriction of fluid intake and administration of NaCl. We suggest immunological mechanisms such as cGVHD may cause chronic inflammatory demyelinating polyradiculoneuropathy and hyponatremia.