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EEG Pattern in Neonatal Maple Syrup Urine Disease: Description and Clinical Significance.
Rajesh P Poothrikovil1, Khalid Al Thihli2, Amna Al Futaisi3
1Department of Clinical Physiology Sultan Qaboos University Hospital Muscat, Sultanate of Oman.
The Neurodiagnostic Journal
|August 27, 2021
Summary
Maple Syrup Urine Disease (MSUD) is a rare metabolic disorder. A specific EEG pattern, central comb-like rhythm, can aid in its early diagnosis in newborns.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Maple Syrup Urine Disease (MSUD) is a rare autosomal recessive metabolic disorder.
- It stems from a deficiency in the branched-chain keto acid dehydrogenase complex.
- This deficiency impairs the metabolism of leucine, isoleucine, and valine.
Observation:
- Neonatal MSUD can present with progressive encephalopathy, including lethargy and vomiting.
- Electroencephalogram (EEG) is crucial for evaluating neonatal encephalopathy and seizures.
- A distinctive EEG pattern, central comb-like rhythm, has been identified in neonatal MSUD.
Findings:
- The study describes a patient with classic MSUD exhibiting the central comb-like rhythm on EEG.
- This specific EEG pattern can be mistaken for other abnormalities like epileptic discharges.
- Background EEG abnormalities and epileptic discharges may coexist with comb-like rhythm in MSUD.
Implications:
- Early identification of the central comb-like rhythm is vital for prompt MSUD diagnosis.
- Recognizing this EEG marker can prevent misdiagnosis and facilitate timely treatment.
- Improved EEG interpretation can lead to better outcomes for infants with MSUD.
