Kosztolanyi Syndrome

At a glance

Polymalformative syndrome characterized by Marfan-like appearance (arachnodactyly), ossification disorders, and mental retardation.

Synonym

Arachnodactyly-Abnormal Ossification-Mental Retardation Syndrome.

Incidence

Five patients have been reported in the literature.

Genetic inheritance

The possible association with chromosome 10 has been reported.

Pathophysiology

Unknown.

Clinical aspects

Numerous craniofacial abnormalities, including protruding eyes with downward-slanting palpebral fissures, midface hypoplasia, short, upturned nose, micrognathia, and abnormal, severely underdeveloped epiglottis. Arachnodactyly was present in all cases. Severe developmental delay can be present. Recurrent apneic episodes and feeding difficulties are common.

Anesthetic considerations

The main concerns are related to craniofacial abnormalities. Potential difficult airway is to be expected with face-mask ventilation, laryngoscopy, and tracheal intubation. Since these patients are prone to airway obstruction and apneas, minimizing or avoiding exposure to opioids or other sedatives is desirable. Close monitoring postoperatively is a requirement. Respiratory function may be compromised as a result of repeated aspiration pneumonias. The ability to protect the airway from aspiration is probably impaired as a result of the abnormal epiglottis. Malnutrition because of feeding difficulties may alter drug binding and clearance and impair the immune system function. Malnourished patients may also suffer from electrolyte disturbances and dehydration.

Other conditions to be considered

• ☞Congenital Contractural Arachnodactyly (☞Beals Syndrome): Marfanoid presentation. Other features include flexion contractures of multiple and major joints (including elbows, knees, hips, and fingers), often severe kyphoscoliosis accompanied by ventilation impairment, muscular hypoplasia, cardiovascular abnormalities (atrial septal defect, ventricular septal defect, interrupted aortic arch, single umbilical artery, and, rarely, aortic root dilatation); duodenal and esophageal atresia, intestinal malrotation; and camptodactyly. It is thought to be associated with mutations in the fibrillin 2 gene.

• ☞Marfan Syndrome: Generalized connective tissue disorder with impaired structural integrity of the skeletal (hyperextensible joints), ocular, pulmonary (spontaneous pneumothorax), and cardiovascular systems (risk of valvular/aortic disease) caused by mutations in the fibrillin 1 gene.

References