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At a glance

This is a medical condition characterized by hypogonadism, alopecia, and progressive extrapyramidal neurologic anomalies and intellectual symptoms. The neurological manifestations included moderate to severe intellectual decline, muscular hypotonia, choreoathetoid posture and dystonic movements resulting in gait difficulty, dysarthria, dysphagia, and scoliosis. The onset of these symptoms in these patients began in early adolescence and progressed more rapidly in males.

Synonym

Alopecia-Hypogonadism-Extrapyramidal Syndrome.

N.B.: The literature occasionally indicates that the Devriendt Legius Fryns Syndrome and the Woodhouse Sakati Syndrome (see “Other conditions to be considered”) are the same entity. However, the presence of endocrine anomalies in the latter one and different mutations make both condition separate entities.

Incidence

The exact incidence remains unknown. It is prevalent in Saudi Arabia. Other cases have also been described in Turkey, Croatia, and Middle East descent individuals. The association with consanguinity has been established.

Genetic inheritance

It is considered a newly discovered autosomal recessive disorder based on its presence in two children (a boy and a girl) of consanguineous parents.

Diagnosis

The constant biochemical abnormality is low IGF-1. Magnetic resonance imaging shows in all affected individuals white matter anomalies involving the cerebellum, brain stem, and cerebral structures, as well as abnormal decreased signal intensity in the basal ganglia with involvement of the substantia nigra.

Clinical aspects

All affected patients present total or partial alopecia, clinical and chemical evidence of hypogonadism (low levels of estradiol and testosterone). Females have streak or absent ovaries. In the original case described by Devriendt et al, the boy’s childhood was described as uneventful. First symptoms were noted at about age 12 years, when speech difficulties and learning problems and gait abnormalities were noted. Fine motor skills started to decline thereafter, mainly as a consequence of reduced muscle strength and neurologic control. Absence of puberty (prepubertal penis and testes) and nondevelopment of secondary male sex characteristics were diagnosed at age 17 years. Neurologic examination at that time showed dystonia and dysarthria that, by age 47 years, had progressed to almost complete inability to walk (as a consequence of dystonic and choreoathetotic movements) and speak, combined with eating and drinking difficulties. Alopecia was noted in early adulthood. The sister was affected earlier than her brother, with learning problems noted in primary school, requiring special education. Her motor skills declined faster, and she was wheelchair-bound by the time she was in her early 20s. She also showed signs of primary hypogonadism and no development of secondary female sex characteristics. Dysarthria and alopecia occurred at age 14 years and were slowly progressive.

Anesthetic considerations

None reported. However, depending on the age and severity of neurologic symptoms, recurrent pulmonary aspirations are possible, and a preoperative chest radiograph might be ...

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