Wolf-Hirschhorn syndrome: a case report

*Correspondence: [e-mail].

Abstract

Case Presentation: We report a case of Wolf-Hirschhorn Syndrome which was followed up by the Pediatric Neurology team at Hospital Santo Antônio. Patient Y.L.C.S., 1 year and 19 days old, female, from Cícero Dantas - BA, with a history of prolonged hospitalization in the first four months of life due to investigation of genetic syndrome and congenital heart disease. At seven months, the patient developed an epileptic syndrome with three distinct seizure semiologies: focal seizures with motor automatisms, myoclonic seizures in clusters and atypical absence seizures. Initially, phenobarbital was started, then changed to carbamazepine due to inadequate seizure control. With the introduction of this, the patient evolved with worsening of the crises (myoclonus and atypical absence), and was then changed to lamotrigine associated with clobazam, progressing with adequate control of clinical and electroencephalographic seizures. On examination, she presented with global hypotonia, global neurodevelopmental delay, microcephaly, sacral dimple and craniofacial dysmorphisms (bilateral preauricular fossa, bilateral preauricular appendix, ocular hypertelorism). EEG showed generalized spike-wave discharges and neuraxial MRI without abnormalities. A karyotype was performed, which showed the deletion of the short arm of the 4:4p- chromosomes, confirming Wolf-Hirschhorn Syndrome. The patient is being monitored by a multidisciplinary team and is undergoing adjustment of antiepileptic medications.

Discussion: Wolf-Hirschhorn syndrome is a rare congenital syndrome associated with microdeletion of the short arm of chromosome 4 (del 4p16.3) that encodes the MSX1 gene, with an incidence of 1:50,000 births, and twice as frequent in females. It is associated with multiple birth defects, such as prominent glabella, high arched eyebrow, wide nasal bridge, hypertelorism, microcephaly with micrognathia, cleft lip and/or palate, in addition to congenital heart defects and neurological manifestations (seizures, epilepsy, mental retardation, muscular hypotonia). Epilepsy is one of the major concerns for parents and professionals caring for children with WHS. Seizures tend to occur in over 90% of patients, with onset within the first 3 years of life, and a peak incidence at around 6-12 months of age.

Final Comments: Due to the rarity and diagnostic difficulty, the recognition and reporting of cases is imperative for better understanding and management of patients.

Publication History

Article published online:
12 May 2025