Syndrome characterized by hypogonadism, alopecia, and
progressive neurologic and intellectual symptoms.
Has been suggested to be a newly
discovered autosomal recessive disorder based on its presence in two
children (a boy and a girl) of consanguineous parents.
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
None reported. However, depending on the
age and severity of neurologic symptoms, recurrent pulmonary aspirations are
possible, and a preoperative chest radiograph might be helpful. Long-term
muscle inactivity (wheelchair-bound) precludes the use of succinylcholine
because of the risk of a hyperkalemic response.
Devriendt K, Legius E, Fryns JP: Progressive extrapyramidal disorder with
primary hypogonadism and alopecia in sibs: A new syndrome? Am J Med Genet