CAMFAK Syndrome

This congenital syndrome presents with craniofacial, skeletal, and neurologic anomalies and might be an early form of Cockayne syndrome. CAMFAK is an acronym for cataract, microcephaly, failure to thrive, and kyphoscoliosis.

Extremely rare, with probably fewer than 15 cases described. Autosomal recessive.

Severe mental and growth retardation, microcephaly and micrognathia with bird-like facies (with similarities to Seckel Syndrome), spasticity, cerebellar hypoplasia, cerebral and cerebellar microcalcifications, central and peripheral demyelination, cataracts, enophthalmos, kyphoscoliosis, Arthrogryposis, bilateral hip dislocations, and camptodactyly.

The presence of micrognathia indicates potentially difficult airway management. Maintain spontaneous ventilation and avoid neuromuscular blockers until the airway has been secured. Patient positioning and vascular access may be difficult due to spasticity and arthrogryposis. If kyphoscoliosis is clinically significant, preoperative lung function tests, arterial blood gas analysis, and echocardiography may be indicated. Regional anesthesia is not contraindicated per se. However, given the clinical findings, it seems technically challenging (limited cooperation and difficult positioning). Furthermore, in a progressive demyelinating disease, the authors would not recommend a central neuraxial anesthesia technique. Anxiolytic and sedative premedication (careful in patients with cardiopulmonary compromise due to kyphoscoliosis) and the presence of the primary caregiver during induction of anesthesia may be helpful. Kyphoscoliosis with associated respiratory dysfunction increases the risk of postoperative mechanical ventilation, which should be arranged for in advance.

Cockayne Syndrome: A complex congenital genetic disorder characterized by the association of dwarfism, deafness, microcephaly, facies similar to progeria syndrome, ataxia, photosensitivity and eye malformations, retinal atrophy, and renal insufficiency with premature aging and atherosclerosis.

Seckel Syndrome: Syndrome involving a form of primordial dwarfism with a characteristic head shape (“bird-like") and pongidoid microcephaly (also called “chimpanzee brain"). Other features include large ears, sparse hair, joint defects, clubfoot, trident hands, and mental retardation.

Pena-Shokeir Syndrome Type II: A rapidly progressive neurologic disorder leading to brain atrophy with calcifications, cataracts, microcornea, optic atrophy, progressive joint contractures, and growth failure.