This congenital syndrome presents with craniofacial, skeletal, and neurologic anomalies and might be an early form of ☞Cockayne Syndrome. CAMFAK is an acronym that stands for CAtaract, Microcephaly, FAilure to thrive, and Kyphoscoliosis.
First described in 1971 by the Canadian physician R.B. Lowry and colleagues in two siblings from unrelated healthy parents.
Extremely rare, with probably fewer than 15 cases described.
Severe mental retardation with spasticity, cerebellar hypoplasia, cerebral and cerebellar microcalcifications, agenesis of the corpus callosum, small pons, central and peripheral de- and dysmyelination, muscular hypertonia, absent deep tendon reflexes, bilateral Babinski signs, and inability to sit, roll over, or lift the head from a prone position. Abnormal bilateral brainstem auditory evoked responses indicate severe conduction defects in the eighth cranial nerve. Facial features consist of microcephaly and micrognathia with bird-like facies (with similarities to ☞Seckel Syndrome), narrow palpebral fissures, enophthalmos, cataracts, and sparse hair growth. Skeletal anomalies include and severe growth retardation (one patient who died from acute bronchitis at the age of 14 years weighted just slightly >5 kg), progressive kyphoscoliosis, arthrogryposis, bilateral hip dislocations, bilateral vertical tali, camptodactyly, and generalized, severe, progressive, joint contractures. Other findings may include cryptorchidism and micropenis in males, single transverse palmar crease, seizures, failure to thrive, and difficulties in dilating the pupils with medications.
Precautions before anesthesia
Assess for difficult airway management. If kyphoscoliosis is clinically significant, arterial blood gas analysis, and echocardiography may be indicated. Preoperative lung function tests could be helpful, but due to severe mental retardation with limited or absent patient cooperation they are most likely unattainable. Anticonvulsant therapy should be continued until the morning of surgery and resumed as soon as possible postoperatively and given intravenously if oral intake is not possible. Anxiolytic and sedative premedication (caution in patients with cardiopulmonary compromise due to kyphoscoliosis) and the presence of the primary caregiver during induction of anesthesia may be helpful.
The presence of micrognathia indicates potentially difficult airway management. Thus, maintenance of spontaneous ventilation is recommended until the airway has been secured. Alternative airway management options should be immediately available (eg, supraglottic airway device, fiberoptic bronchoscope) and adherence to an established difficult airway algorithm is advised. A surgeon familiar with surgical airway management and the necessary equipment should easily be available in the operating room. Alternatively, an awake fiberoptic intubation should be considered. These patients are significantly smaller than expected from their age, hence endotracheal tubes several sizes smaller than calculated should easily be available. Patient positioning and vascular access may be difficult due to spasticity and arthrogryposis. Generous padding will be ...