Discussion:
This case report presented a male infant who developed involuntary muscle spasms, psychomotor retardation, cortical atrophy, and abnormal EEG patterns at four months. The patient later exhibited recurrent epileptic seizures and status epilepticus, eventually leading to his death at nine months of age due to acute respiratory distress syndrome and heart failure. The patient was diagnosed with alpha-ketoglutarate dehydrogenase deficiency, a rare metabolic disorder that affects the metabolism of amino acids and leads to impaired energy production in the brain.
This case’s significance lies in the disease’s rarity, and the challenges clinicians face in diagnosing and managing such patients. The symptoms of alpha-ketoglutarate dehydrogenase deficiency are nonspecific and can be confused with other neurological disorders. Therefore, it is crucial to consider this condition in the differential diagnosis of infants presenting with developmental delay, psychomotor retardation, and seizures, especially in those with a family history of consanguinity or metabolic disorders.
The existing literature on alpha-ketoglutarate dehydrogenase deficiency is limited, and most of the reported cases are from consanguineous families in Middle Eastern and North African countries. In a recent literature review, Almutairi et al. (2020) reported 18 cases of alpha-ketoglutarate dehydrogenase deficiency, with variable clinical presentations ranging from neonatal encephalopathy to infantile-onset epilepsy and psychomotor regression [4]. The authors highlighted the importance of early diagnosis and prompt treatment with a ketogenic diet and carnitine supplementation, which can improve clinical outcomes and prevent metabolic crises.
The current literature suggests that alpha-ketoglutarate dehydrogenase deficiency is a rare metabolic disorder that can present with a wide range of clinical features, including seizures, hypotonia, developmental delay, and lactic acidosis [5]. However, the diagnosis can be challenging due to the nonspecific nature of the clinical presentation and clinicians’ need for more awareness of this condition.
In this case, the diagnosis was delayed, and the patient was treated for epilepsy for several months before making the correct diagnosis.
The management of alpha-ketoglutarate dehydrogenase deficiency involves a combination of dietary interventions and pharmacological therapies [6]. In this case, the patient was treated with a high-fat, low-carbohydrate diet and several antiepileptic drugs, including phenobarbital, vigabatrin, topiramate, and pyridoxine. However, despite these interventions, the patient continued to have recurrent seizures and ultimately died due to complications of the disease.
The findings of this case report are consistent with previous reports of the challenges in diagnosing and managing alpha-ketoglutarate dehydrogenase deficiency. Diagnosing this condition requires a high index of suspicion, and prompt diagnosis and management are essential to prevent long-term morbidity and mortality. The current literature suggests that early diagnosis and treatment with dietary interventions and pharmacological therapies can improve the long-term outcomes of patients with alpha-ketoglutarate dehydrogenase deficiency [7].