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].