Abstract
Megacephaly polymicrogyria, polydactyly, hydrocephalus (MPPH) is an extremely rare condition caused by a defect in the AKT3, CCND2, or PIKR2 genes. Although the prevalence of the syndrome is very low, there is a significant clinical and radiological variation in the syndrome. We present a case with MPPH admitted to the hospital due to an increase in seizure frequency. The patient had a history of cerebral palsy, global developmental delay, spasticity, and hypoglycemic episodes. MRI findings revealed ventriculomegaly, polymicrogyria, abnormal encephalon, and pachygyria. The addition of clobazam and alprazolam diminished the seizures' frequency and the patient's spasticity, respectively. To highlight the clinical and radiological variation of the syndrome, we review cases of MPPH with clinical and radiological variants. Pachygyria and cerebral palsy are new associations not previously described before in MPPH. Pachygyria and cerebral palsy could be worsening the seizures and the global delay in this patient. Hypoglycemic episodes are probably related to the AKT3 gene, promoting more glucose consumption. Spasticity is most probably related to an upper motor sign due to the patient's cerebral palsy. This case highlights the clinical and radiological variation of the syndrome. More cases of MPPH need to be described to consolidate the knowledge and have a better understanding of the clinical and radiological variation of the syndrome.
Highlights
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome is a rare autosomal dominant syndrome that presents with multiple clinical and radiological features
Polymicrogyria, polydactyly, hydrocephalus (MPPH) is an extremely rare condition caused by a defect in the AKT3, CCND2, or PIKR2 genes
The patient had a history of cerebral palsy, global developmental delay, spasticity, and hypoglycemic episodes
Summary
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome is a rare autosomal dominant syndrome that presents with multiple clinical and radiological features. These findings have not been described before in other cases of MPPH. He was intubated and sedated with clonidine He was diagnosed with MPPH at year one with a genetic due to his unusual clinical features (megalencephaly, global developmental delay, polydactyly). Three months later, he developed eye twitching due to which the patient was put on levetiracetam. A year ago, he started developing partial seizures with secondary generalization, with a frequency of once every two months These findings are suggestive of areas of cortical dysfunction leading to epileptogenic areas and correlates with the computer tomography (CT) perfusion sequence This is a 3-year-old male with MPPH, cerebral palsy, with increase in seizure frequency. The patient's prognosis is unclear due to the low number of cases of MPPH and his cerebral palsy
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