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Focal refractory epilepsy associated to 15q13.3 microduplication.
BMJ Case Rep
March 2025
Epilepsy Clinic, National Institute of Neurology and Neurosurgery Manuel Velasco Suarez, Ciudad de Mexico, Mexico.
A young man in his early 20s, with a maternal history of epilepsy and psychiatric disorders, presents with drug-resistant epilepsy (DRE). His seizures began at age 5 following mild head trauma and have since progressed to frequent generalised and focal seizures. Despite treatment with carbamazepine, levetiracetam and gabapentin, seizure control remains elusive.
View Article and Find Full Text PDFPseudohypoparathyroidism type 1B with involuntary movements: a case report and literature review.
Clin Pediatr Endocrinol
March 2024
Department of Pediatrics, Dokkyo Medical University, Tochigi 321-0293, Japan.
Article Synopsis
- Pseudohypoparathyroidism (PHP) is a rare disorder causing symptoms like convulsions and involuntary movements due to resistance to parathyroid hormone, resulting in low calcium levels.
- A case study of a 7-year-old girl showed her involuntary movements were initially misdiagnosed and treated with carbamazepine but led to convulsions and revealed significant underlying electrolyte imbalances and brain calcifications.
- Diagnosis was confirmed via genetic testing, and treatment with calcium and vitamin D resolved her symptoms, highlighting the importance of early blood tests for proper PHP diagnosis in patients with similar movement disorders.
A Case of Focal Seizures Presented With Recurrent Sweating and Chills.
Cureus
January 2024
Department of Internal Medicine, Suwa Central Hospital, Nagano, JPN.
Focal seizures, characterized by excessive electrical excitation in a brain region, present diagnostic challenges due to diverse manifestations, particularly with non-motor symptoms. Here, we present a 69-year-old Japanese woman experiencing unexplained recurrent episodes of sweating, chills, and shivering. Despite exhaustive investigations that identified no abnormalities, her symptoms remained unalleviated by symptomatic treatments.
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