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At a glance

Partial destruction of hypothalamic nuclei resulting in hormonal dysfunction with obesity, growth retardation, and hypogonadism.

Synonyms

Adiposogenital Syndrome; Dystrophia Adiposo-Genitalis; Neuropituitary Dystrophy; Infundibulo-Tuberal Syndrome; Cerebral Adiposity; Pituitary Infantilism of Adults; Fröhlich Syndrome; Fröhlich Obesity; Morbus Fröhlich; Launois-Cléret Syndrome; Ptosis-Iridic Coloboma-Intellectual Deficit Syndrome.

History

First described in 1900 by the French-Polish neurologist Joseph Babinski (1857-1932) and second case 1 year later by the Austrian neurologist and pharmacologist Alfred Fröhlich (1871-1953).

Incidence

Unknown, but males are more often affected than females.

Pathophysiology

This acquired disorder can be caused by several organic lesions of the hypothalamus (or more specifically, the infundibulo-tuberal region in the floor of the third ventricle), including tumors (approximately 40% of craniopharyngiomas are located in this infundibulo-tuberal region; Babinski-Fröhlich Syndrome was present in 54% of patients with an infundibulo-tuberal craniopharyngioma), encephalitis, ☞Friedreich Ataxia or demyelinating diseases. Fröhlich originally described a 12-year-old boy with severe headache and vision impairment, delayed puberty, hypogonadism, and obesity associated with a tumor impinging on the hypothalamus. Eight years later, this patient eventually underwent transnasal resection of what was most likely a cystic adenoma of the pituitary region and clinically improved significantly thereafter. The presence of obesity indicates injury to the appetite-regulating regions of the hypothalamus. The hypothalamic dysfunction and hypopituitarism mainly affect the somatotropic hormones and the gonadotropins.

Diagnosis

Based on the clinical and biochemical features (low serum gonadotropin levels; positive vasopressin test for polyuria in the presence of diabetes insipidus [DI]). Radiologic examinations (x-ray, CT, MRI) may show delayed ossification of skeletal structures, suprasellar calcifications, or destruction, depending on the etiology.

Clinical aspects

The clinical findings in Infundibulo-Tuberal Syndrome are characterized by endocrine, metabolic, neurological, and neuropsychological features that are closely related to the location and extent of the lesion in the floor of the third ventricle, ie, the basal region of the hypothalamus with the infundibulum and the tuber cinereum (with sparing of the pituitary gland). The nuclei and axon bundles from this infundibulo-tuberal region are involved in the control of eating behavior, energy metabolism, sleep, neuroendocrine, sexual, and reproductive functions as well as control of the internal milieu. Obesity with prepubertal onset mainly affects the breasts, abdomen, hips, and thighs. Puberty and the development of secondary sexual characteristics are delayed. Clinically, these patients may suffer from severe headache with nausea and vomiting, abnormal diurnal sleepiness (in about 40% of patients), visual impairment (blindness has been described), and occasionally mental (short-term memory defects) or psychiatric (emotional and behavior occasionally with aggressiveness) problems. Polyuria and polydipsia are the result of DI.

Precautions before anesthesia

Dehydration as a consequence of DI will require preoperative fluid replacement and assessment (and correction if necessary) of serum electrolytes. For ...

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