Novel Syndrome With Congenital Thumb Aplasia, Epilepsy, Cognitive Impairment, and Myopathy: A Case Report

The combination of thumb aplasia, epilepsy, cognitive impairment, skeletal deformities, and myopathy has not been previously reported. The patient is a 22-year-old man with congenital bilateral thumb aplasia, developmental delay, and cognitive impairment who suffered a first tonic-clonic seizure at the age of 16 and was treated with valproic acid (VPA). At the age of 22, lamotrigine was added due to seizure recurrences and absences. Neurological examination revealed cognitive impairment, latent strabismus, thumb aplasia, orthopedic anomalies of the feet, gnome calves, and absent tendon reflexes. Electromyography indicated a myopathy. Although the family history was negative for thumb aplasia, epilepsy, mental retardation, myopathy, and orthopedic disease, the clinical presentation of the index patient was suspected due to a sporadic genetic defect at either the chromosomal or gene level. Chromosomal micro- or macrodeletions or duplications as well as point mutations in PTPRQ, SALL4, RECQL4, and SALL1 have previously been identified in syndromic thumb aplasia. In conclusion, the presented case represents a novel syndrome with the phenotypic manifestations of epilepsy, myopathy, cognitive impairment, mild dysmorphism, and congenital thumb aplasia. Physicians should remain vigilant and interested in patients with syndromic thumb aplasia.