TY - JOUR
T1 - EEG Pattern in Neonatal Maple Syrup Urine Disease: Description and Clinical Significance
T2 - Description and Clinical Significance
AU - AL-Futaisi, Amna
N1 - Publisher Copyright:
© 2021 ASET–The Neurodiagnostic Society.
PY - 2021
Y1 - 2021
N2 - Maple Syrup Urine Disease (MSUD) is a rare autosomal recessive disorder characterized by deficiency of branched-chain keto acid dehydrogenase complex, which is required to metabolize the three branched chain amino acids (BCAAs), leucine, isoleucine and valine. This metabolic dysfunction results in progressive encephalopathy manifesting with lethargy, vomiting, posturing and abnormal movements during the neonatal period in the classic form of the disease. If untreated, progressive brain damage causes coma, seizures and death usually within a few weeks. EEG is an essential investigation in a neonate with progressive encephalopathy and seizures. EEG abnormalities in neonatal encephalopathies due to inborn error of metabolism (IEM) are widely variable depending on the severity. Central comb-like rhythm is an EEG marker of neonatal MSUD in appropriate clinical context. This pattern should not be mistaken for epileptic abnormalities, sleep spindles or other similar nonspecific activities. We describe a patient with classic MSUD who presented with an EEG pattern of comb-like rhythm. Background abnormalities and epileptic discharges are common along comb-like rhythm in MSUD patients. EEG technologists and interpreters should be able to identify this pattern to support the early diagnosis and treatment of MSUD.
AB - Maple Syrup Urine Disease (MSUD) is a rare autosomal recessive disorder characterized by deficiency of branched-chain keto acid dehydrogenase complex, which is required to metabolize the three branched chain amino acids (BCAAs), leucine, isoleucine and valine. This metabolic dysfunction results in progressive encephalopathy manifesting with lethargy, vomiting, posturing and abnormal movements during the neonatal period in the classic form of the disease. If untreated, progressive brain damage causes coma, seizures and death usually within a few weeks. EEG is an essential investigation in a neonate with progressive encephalopathy and seizures. EEG abnormalities in neonatal encephalopathies due to inborn error of metabolism (IEM) are widely variable depending on the severity. Central comb-like rhythm is an EEG marker of neonatal MSUD in appropriate clinical context. This pattern should not be mistaken for epileptic abnormalities, sleep spindles or other similar nonspecific activities. We describe a patient with classic MSUD who presented with an EEG pattern of comb-like rhythm. Background abnormalities and epileptic discharges are common along comb-like rhythm in MSUD patients. EEG technologists and interpreters should be able to identify this pattern to support the early diagnosis and treatment of MSUD.
KW - Comb-like rhythm
KW - EEG
KW - inborn error of metabolism (IEM)
KW - maple syrup urine disease (MSUD)
KW - neonatal encephalopathy
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U2 - 10.1080/21646821.2021.1935628
DO - 10.1080/21646821.2021.1935628
M3 - Article
SN - 2164-6821
VL - 61
SP - 123
EP - 131
JO - Neurodiagnostic Journal
JF - Neurodiagnostic Journal
IS - 3
ER -