Familial insulin resistant diabetes associated with acanthosis nigricans, polycystic ovaries, hypogonadism, pigmentary retinopathy, labyrinthine deafness, and mental retardation

Abstract

Two sibs, whose parents are first cousins, had diabetes mellitus with hyperinsulinism, insensitive insulin receptors, and acanthosis nigricans. Both patients had pigmentary retinopathy, secondary cataracts, labyrinthine deafness, mental retardation, and cerebral atrophy. They were disproportionately short with relatively broad hands and feet and slightly coarse face. The young woman had secondary amenorrhea and polycystic ovaries and the boy gynecomastia and hypergonadotrophic hypogonadism. This appears to be the second family with a new autosomal recessive disorder differing from Alström syndrome by the presence of mental retardation and absence of renal insufficiency. Impaired insulin receptor binding and polycystic ovaries are described as part of this syndrome.

Alstrom syndrome: A case report.

“…Clinical manifestations of both siblings seemed to be consistent with the features of Alstrom syndrome (1, [3][4][5][6]. Enamel opacities which scored between 2 and 3 (11), and discolored enamel bands on the central and lateral teeth of both sisters are characteristics of a moderate form of systemic band-like enamel hypoplasia.…”

“…This syndrome affects the ocular system during the 2nd decade (3)(4)(5)(6), the auditory system between the 2nd and 3rd decades (3)(4)(5) and the genitourinary (1, 3,5,6) and integumentary systems (1, 3,4,6) during the 4th decade. It is characterized by early obesity (1,4), loss of central vision due to atypical retinal degeneration, diabetes mellitus (3)(4)(5)(6), sensorineural hearing loss (3-5) and short stature (3,7,8). Radiologic examination of affected patients has also revealed scoliosis and hyperostosis frontalis interna (5,9).…”

“…Alstrom syndrome is a rare disorder, with fewer than 30 cases reported (3)(4)(5)(6)(7)(8)(9)(10). In recent studies, patients with Alstrom syndrome were examined for endocrine insufficiency, and it was reported that growth hormone deficiency may account for the short stature.…”

Three new cases of Alström syndrome

“…Sensorineural deafness is a constant feature of Alström syndrome [1,3,9] and is present in all three of our patients. Hearing loss begins in the first decade and may be progressive, as in case 1.…”

“…According to the majority of authors, ophthalmoscopic examination shows severe atypical pigmentary retinopathy with pale and waxy optic disks and thread-like sheathed and ghost-like vessels emerging from the optic disk [1,3,5,11,15]. Neither bone spicules nor diabetic retinopathy is described.…”