[A case of Kallmann syndrome with bilateral calcifications at the basal ganglia].
A twenty-year-old male with hematoemesis was transported to our department in an unconscious state. His past history was epilepsy in infancy and the evacuation of an undescended testis for cryptochidism at three years of age. His familial history included duodenal ulcers and amyotrophic lateral screlosis among his relatives on his father's side of the family. On arrival, he demonstrated a sleeping tendency regardless of his stabilized vital signs. He had experienced a delayed puberty. A head CT examination revealed bilateral calcification at both the globus pallidus, caudate nucleus and periventricular regions, and an endoscopic study showed a duodenal ulcer. An EEG depicted a 2 Hz spike and slow waves in the occipital areas. An endocrinological examination demonstrated a low value of free testosterone and follicle stimulating hormone (FSH). The FSH and luteinizing hormone (LH) both demonstrated a hypo-reaction to the LH-releasing hormone test. A head MRI revealed bilateral olfactory bulb aplasia while the venous olfactory test with thiamine propyldisulfide was negative. Accordingly, he was diagnosed to have Kallmann syndrome. A follow-up endoscopic examination exhibited an improvement in his ulcer and he was also discharged on the 13th hospital day. Kallmann syndrome should thus be included in the differential diagnosis when young individuals present with calcifications in the basal ganglia.
Yanagawa
Youichi
Y
Department of Traumatology and Critical Care Medicine, National Defense Medical College, 3-2 Tokorozawa, Namiki, Saitama 359-8513, Japan.
Okada
Yoshiaki
Y
D000328:Adult; D001480:Basal Ganglia Diseases / Q000150:complications* / Q000175:diagnosis; D002114:Calcinosis / Q000150:complications* / Q000175:diagnosis; D004381:Duodenal Ulcer / Q000150:complications; D006801:Humans; D017436:Kallmann Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D014057:Tomography, X-Ray Computed