[Cerebellar ataxia with hypogonadotropic hypogonadism]

A 38-year-old male began to develop progressive difficulty in speaking and walking in his early thirties. He was the younger of four siblings from the parents of consanguineous marriage. Allegedly, his brother had showed similar symptoms. On examination, he was sexually underdeveloped with absent facial and public hair as well as small firm testes. He showed typical eunuchoid habitus. Neurologically, his gait was markedly ataxic and speech was explosive. He was mildly demented (verbal IQ = 66) and eupholic. Generalized hyperreflexia and positive Babinski were observed. There were no signs of extrapyramidal, autonomic or peripheral nerve involvement. Laboratory data were remarkable for low level of serum gonadotropins and low level of HVA and 5-HIAA in CSF. Plasma long-chain fatty acids were normal and lysosomal enzymes in leukocyte including ASA showed no significant change. EEG showed diffuse slow activities with spikes on photic stimulation. The endocrinological studies including insulin-induced hypoglycemia and TRH test demonstrated hypothalamus-pituitary axis dysfunction. GH-RH test showed delayed response of GH secretion, suggesting the presence of hypothalamic disturbance. Brain CT showed cerebellar atrophy and symmetrical low density area in the cerebral white matter. On MRI, T2 weighed image showed diffuse and symmetrical high intensity area in the cerebral white matter. High signal intensities were also noted in the bilateral thalamus and pons. It is suggested that both hypogonadotropic hypogonadism and cerebellar ataxia in this disease may have a common underlying pathology of white matter.