Alstrom , Hallgren, Nilsson and Asander found a syndrome in a Swedish family characterized by transient early obesity, loss of central vision due to atypical retinal degeneration, diabetes in adults and progressive sensorineural deafness. Other cases have been described by Klein and Amman, Weinstein, Kliman and Scully (1969), Lista, Podesta and Mazzei, Goldstein and Fialkow, as well as Edwards, Sethe and Seoma. One of the patients described by Klein and Ammann was previously noted by Graf. Less similar examples have been described by Boenheim in sibling boys.
Clinical data . Inspection Data In all sick children aged 2 to 10 years, mild or moderate obesity of the body was found, and this condition usually disappeared with age. None of the adult men was taller than 165 cm and none of the women was taller than 160 cm.
Organ of vision . All patients had nystagmus during the first 2 years of life and progressive loss of vision was detected. Vision deteriorated slowly, but in the second decade of life there was almost complete blindness, which developed in connection with diffuse degeneration of the retina, covering both the center and the periphery. During the second decade of life, mild or moderate posterior cortical cataracts were also usually detected. Secondary changes included optic atrophy, pigmentation changes, lens dislocation, and glaucoma (Goldstein, Fialkow).
Nervous system . Neurological studies did not reveal any pathology, except for the eyes or ears. Intellectual development in all patients was normal.
The skin . In almost all cases, premature baldness in men and scanty hair growth or nesting baldness in women were noted. In axillary regions, black acaptosis was found in all examined patients.
Genitourinary system . The most unstable feature of the syndrome appears to be chronic kidney disease. It can be manifested easily, only in the form of a dysfunction of the glomerulus or tubules, manifested by aminoaciduria and the inability to concentrate water, or in the form of severe kidney damage leading to death. Renal problems first become apparent in the third decade of life (Goldstein, Fialkow).
In men , small testicles are observed, but normal hairiness on the pubis and chin. Women have menstrual irregularities (oligomenorrhea, dysmenorrhea, hypermenors, metromenorrhagia), as well as sparse hair in the armpits and pubic area. There are no signs of hypogonadism.
Organ of hearing . Penosensory hearing impairment was first noted at the age of about 7 years. They progress and reach a severe degree in the second and third decades of life. A study using the Bekesy method and the SISI test suggest a snail lesion (Goldstein, Fialkow3).
Vestibular system . Vestibular pathology is not mentioned.
Laboratory data . X-ray examination revealed scoliosis and internal frontal bone hyperostosis (Klein, Ammann, Goldstein, Failkow).
In the third decade of life , carbohydrate intolerance was first detected, observed in 8 out of 10 cases. In 3 fasting patients, hyperglycemia was detected, in 4 carbohydrate intolerance was detected with glucose loading, despite normal fasting blood sugar, and in one patient diabetes was diagnosed, but this condition has not been documented (Weinstein et al.). Kidney damage was manifested by albuminuria, an increase in the level of urinary nitrogen in the blood, aminoaciduria, gyneururicmia, and in some cases nephrogenic diabetes insipidus.
In 3 out of 4 examined patients, hypertriglyceridemia was detected with an increase in the prebetaliaoprotein fraction. Urinary 17-ketosteroids were decreased, and urinary gonadotropin levels were elevated in men. Plasma testosterone levels were low (Weinstein et al., Klein, Ammann).