Differential diagnosis of generalized lipodystrophy syndrome

Generalized Lipodystrophy.

Congenital generalized lipodystrophy.

Clinical features of congenital generalized lipodystrophy, a rare disorder, first described by Zeigler include loss of subcutaneous fat, hepatomegaly, increased bone growth, hyperlipaemia and, later, diabetes. The inheritance is probably autosomal recessive. Generalized lipodystrophy may involve the diencephalon. A probable defect in the hypothalamus may lead to increased levels of hypothalamic...

[Congenital generalized lipodystrophy].

OBJECTIVE To present the major clinical and biochemical characteristics of congenital generalized lipodystrophy. DESCRIPTION Eight infants with congenital generalized lipodystrophy were identified at the Endocrine and Nutritional Pediatric Disease Outpatient Clinics at Hospital de Clínicas, Universidade Federal de Minas Gerais (UFMG). Clinical manifestations common to all patients included mu...

Diagnosis and Differential Diagnosis of Cushing’s Syndrome.

The clinical recognition of Cushing's syndrome and its biochemical confirmation is a challenging problem. The best diagnostic approach to patients with suspected Cushing's syndrome is still evolving. The traditional diagnostic approach of urine free cortisol and low-dose dexamethasone suppression testing may be inadequate when the degree of hypercortisolism is mild. Late-night salivary cortisol...

Diagnosis and differential diagnosis of Asperger syndrome

Asperger syndrome is an uncommon condition, but probably more common than classic autism (the only published population study estimated prevalence at 36 per 10 000 children for Asperger syndrome and 5 per 10 000 for autism (Ehlers & Gillberg, 1993)). Misdiagnosis or delayed diagnosis of this disorder is a serious problem, and the average age at diagnosis is several years later than for autism (...