[A case of Kennedy-Alter-Sung syndrome with type IIa hyperlipidemia--study on sex hormone receptor and lipid metabolism].
A 57-year-old man of Kennedy-Alter-Sung syndrome (K-A-S) with type IIa hyperlipidemia was reported with studies of several sex hormone receptors. He noticed tremulous movements of hands on gripping at age 40 and gynecomastia at age 46. He had been pointed out to waddle since 52 years old, and also noticed difficulty in going up stairs and standing up at age 54. He was admitted to our Neurology Service on June 5, 1989. On general physical examinations, gynecomastia, eyelids xanthomas and hypertrophy of Achilles tendons were found. Neurologic examination revealed clear consciousness and slight dysarthric speech with nasal voice. Cranial nerves showed mild bilateral facial weakness, poor uvula and soft palatal movements, atrophy and weakness of bilateral sternocleidomastoid muscles, and atrophy of tongue with fasciculation. The four extremities were hypotonic, and proximal muscular atrophy and weakness of four extremities were seen. Deep tendon reflexes were absent in four extremities and fasciculation on both thighs was noted on contraction. Sensory and cerebellar functions were intact. Waddling gait and Gowers' sign were present. In K-A-S syndrome, abnormal lipid metabolism such as a family of type IIa hyperlipidemia, or familial and sporadic cases of type IV hyperlipidemia has been documented. In the family of our cases, his elder sister was found to have type IIa hyperlipidemia, while his son had type IV hyperlipidemia. The coexistence of these two types of hyperlipidemia in the same family of K-A-S syndrome has not been reported so far to our knowledge.(ABSTRACT TRUNCATED AT 250 WORDS)
Matsuura
T
T
Department of Neurology, Hokkaido University School of Medicine.
Aimoto
Y
Y
Moriwaka
F
F
Tashiro
K
K
Nonomura
K
K
D000125:Achilles Tendon / Q000473:pathology; D006177:Gynecomastia / Q000150:complications* / Q000378:metabolism; D006938:Hyperlipoproteinemia Type II / Q000150:complications* / Q000378:metabolism; D006984:Hypertrophy; D050356:Lipid Metabolism; D008297:Male; D009069:Movement Disorders / Q000150:complications; D009134:Muscular Atrophy, Spinal / Q000150:complications*; D011944:Receptors, Androgen / Q000378:metabolism*; D011960:Receptors, Estrogen / Q000378:metabolism; D011980:Receptors, Progesterone / Q000378:metabolism; D013577:Syndrome; D014973:Xanthomatosis / Q000150:complications* / Q000378:metabolism
D011944:Receptors, Androgen; D011960:Receptors, Estrogen; D011980:Receptors, Progesterone