Katsantoni-Papadakou-Lagoyanni Syndrome

At a glance

Polymalformative syndrome associated with ptosis, mental retardation, and hair anomalies.

Synonyms

Trichodermal Defect Intellectual Disability Syndrome; Trichodermal Defect Mental Retardation Syndrome.

Incidence

There is only one report of two siblings who died of liver problems in infancy.

Genetic inheritance

Exact incidence and pattern of inheritance unknown.

Clinical aspects

Ocular manifestations include blepharoptosis and nystagmus. Neurologic signs are torticollis and mental retardation. The tongue has hyperplastic papillae. Abnormally fine, sparse, brittle hair is present on the body, proximal phalanges of the fingers and toes, and the head. Hair on the body and digits disappeared by the third month of life, leaving behind large dermal pores.

Anesthetic considerations

Enlarged tongue caused by hyperplastic papillae may cause difficulty with face-mask ventilation and possibly endotracheal intubation. Torticollis, or contraction of the cervical muscles, may make airway management awkward, but the spasticity should resolve with administration of neuromuscular blockade. Liver function should be carefully assessed, since both patients died from liver problems. Developmentally delayed patients may be uncooperative.

Pharmacological implications

Careful dosage of drugs with predominantly hepatic metabolism/elimination.

References