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Published on: September 30, 2013
Schizencephaly in LEOPARD syndrome
Jao-Shwann Liang1, Yin-Hsiu Chien, Wuh-Liang Hwu
1Department of Pediatrics, Far Eastern Memorial Hospital, Taipei, Taiwan. jao59@hotmail.com
Insights
This study details a rare case of LEOPARD syndrome in a child with a PTPN11 gene mutation. It highlights the first documented instance of this syndrome co-occurring with schizencephaly, a rare brain malformation.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- LEOPARD syndrome is a rare genetic disorder characterized by multiple lentigines, electrocardiographic abnormalities, facial abnormalities, and other developmental issues.
- Mutations in the PTPN11 gene are a known cause of LEOPARD syndrome.
- Central nervous system (CNS) anomalies are not commonly associated with LEOPARD syndrome.
Observation:
- A 2-year-old boy presented with facial dysmorphism, multiple lentigines, hypertrophic cardiomyopathy, and severe developmental delay.
- Genetic analysis identified a Y279G mutation in the PTPN11 gene in both the patient and his mother.
- The patient exhibited frequent seizures, sensorineural deafness, and brain imaging revealed open-lip schizencephaly.
Findings:
- The clinical presentation and genetic findings confirmed the diagnosis of LEOPARD syndrome.
- This case represents the first documented instance of LEOPARD syndrome associated with schizencephaly.
- The patient's neurological symptoms, including severe developmental delay and epilepsy, underscore the potential for CNS involvement.
Implications:
- The findings suggest that CNS anomalies, particularly schizencephaly, should be considered in the evaluation of patients with LEOPARD syndrome and neurological abnormalities.
- Routine brain imaging may be beneficial for patients with LEOPARD syndrome presenting with developmental delay or epilepsy.
- This case expands the known spectrum of clinical manifestations associated with PTPN11 mutations and LEOPARD syndrome.
Abstract:
We report on a 2-year-old boy with facial dysmorphism, multiple lentigines, and hypertrophic cardiomyopathy. Mutation analyses of the patient and his mother revealed a Y279G mutation in exon 7 of the PTPN11 gene. The presence of LEOPARD syndrome was confirmed by a genetic study and clinical phenotypes. Since age 18 months, the patient had manifested frequent seizures that were poorly controlled by multiple anticonvulsants. Neurologic examinations indicated severe developmental delay and sensorineural deafness. Brain imaging demonstrated open-lip schizencephaly in the right frontoparietal area. Central nervous system anomalies are rarely reported in this disease. To the best of our knowledge, this is the first report of LEOPARD syndrome with associated schizencephaly. Psychomotor retardation is not uncommon in LEOPARD syndrome. We advocate brain-imaging studies of patients with LEOPARD syndrome and neurologic abnormalities such as developmental delay or epilepsy.
