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At a glance

It is a genetic disease characterized by the presence of multiple cerebral malformation, seizures, hypertrichosis, distinct face, claw hands, and overlapping fingers.

Synonyms

Cerebral Malformation Hypertrichosis Overlapping Fingers Syndrome.

History

This medical condition was first described in 1993 in a brother and sister, offspring of first-cousin Kurdish parents.

Incidence

There are only two infants that have been described. The karyotype was normal in both sibs. The brother died in a tonic extension spasm at age 4 months.

Genetic inheritance

It is believed inherited as an autosomal recessive inheritance.

Pathophysiology

Multiple malformations syndrome including cerebral abnormalities, severe seizures, hypertrichosis, distinct face, claw hands, and overlapping fingers.

Clinical aspects

The clinical features described for this medical condition are hydrocephaly, macrocephaly, cerebellar agenesis/hypoplasia, hyperreflexia, corpus callosum/pellucidum agenesis, hypotonia/spasticity/rigidity, camptodactyly, simian crease, coarse/thick hair, overlapping fingers, seizures (any type), pharyngeal abnormality, abnormally placed nipples, and undescended/ectopic testes. Dolichocephaly/scaphocephaly, sutural synostosis (multiple), laryngeal abnormality, synophrys, posterior angulation of and low-set ears with or without anomaly (shape/structure), long philtrum, megaesophagus, microphthalmos, broad nasal root, long/thick lashes, abnormal cry/voice, increased body hair, depressed nasal bridge, deep-set eyes/enophthalmos, and ulnar deviation of fingers can also be associated.

Precautions before anesthesia

Ascertain adequacy of seizure medication and recent control of convulsions. Special reference should be made to finding any signs of pharyngeal or laryngeal abnormality: stridor (inspiratory/expiratory), wheeze, breathlessness, or strange sounding cry/altered voice. An anesthetic consultation should be obtained.

Anesthetic considerations

The position of the head during induction of anesthesia may be difficult to stabilize and may complicate attempts to ventilate and/or intubate the trachea. The association of pharyngeal and/or laryngeal abnormalities may complicate airway management and tracheal intubation as well as render ventilation with facemask impossible. The availability of proper size LMA at the time of induction of anesthesia is highly recommended in case of a scenario of “cannot intubate – cannot ventilate.” Raised intracranial pressure is a potential hazard, and the presence of a ventriculoperitoneal shunt requires antibiotic prophylaxis. Regional anesthesia should be used where possible.

Pharmacological implications

Chronic phenytoin administration increases nondepolarizing muscle relaxant and fentanyl requirements, produces gingival hyperplasia and bleeding, and may cause hepatic dysfunction. Ketamine, enflurane, and methohexital are relatively contraindicated. Use of high concentrations of sevoflurane during induction should be avoided because of the risk of triggering seizure activity.

References

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Muller  FM, Barth  GM, Menger  H,  et al: Cerebral malformation, seizures, hypertrichosis, distinct face, claw hands and overlapping fingers in sibs of both sexes. Am J Med Genet 47:698, 1993.  [PubMed: 8266998]

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