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
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.
Talwar D, Smith SA: CAMFAK syndrome: A demyelinating inherited disease
similar to Cockayne syndrome. Am J Med Genet
Czeizel A, Lowry RB: Syndrome of cataract, mild microcephaly, mental retardation and perthes-like changes
in sibs. Acta Paediat Hung