Neonatal Maple Syrup Urine Disease Research Articles

Neonatal maple syrup urine disease case report and literature review

The main clinical symptoms of maple syrup urine disease (MSUD) are dehydration, acidosis, nervous system symptoms and intellectual disability. The brain imaging findings were mainly caused by cytotoxic edema. The lesions usually occur at the site consistent with the myelination process of normal neonates. The distribution is mostly symmetric, and the diffusion is obviously limited. Herein, we report a rare case of an 8-day-old female patient who presented with abnormal symptoms, such as difficulty eating, convulsions, slow reaction, difficulty in correcting hypoglycemia and severe metabolic disorders. Brain magnetic resonance imaging (MRI) revealed abnormal signal intensity mainly involving the brainstem, cervical spinal cord, bilateral cerebellar hemispheres, basal ganglia, thalamus, precentral gyrus, and postcentral gyrus with characteristic hyperintensity on diffusion-weighted imaging (DWI) sequence. MSUD is rarely reported, while cervical spinal cord involvement is extremely rare. Blood tandem mass spectrometry, urine organic acid detection, and genetic disease overall genetic tests were performed to further confirm the diagnosis of MSUD. Under general anesthesia, she underwent open surgical procedures for liver transplantation. The child was in a stable condition after liver transplantation, and the diet was not restricted. MSUD in neonates is rare. Our case report and literature review was aim to describe the clinic and imaging characteristics of it, and highlight physicians must be aware of this entity in newborns so as to reduce misdiagnosis due to unfamiliarity.

EEG Pattern in Neonatal Maple Syrup Urine Disease: Description and Clinical Significance

ABSTRACT 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.

Imaging in Neonatal Maple Syrup Urine Disease

Imaging in Neonatal Maple Syrup Urine Disease

ERRATA

In "Nasogastric Drip Feeding as the Only Treatment of Neonatal Maple Syrup Urine Disease" by Parini et al, published in Pediatrics (1993;92:280-283), under "Patients" on page 280, "Patients 1 and 4 each received two brief (3-hour) ETs during the first 48 hours of treatment," not patients 1 and 5. On page 282, "Growth and psychomotor development (Brunet-Lezine or Griffiths' scale) are normal in patients 1, 2, 3, and 5 (Table 2), whereas psychomotor development is delayed in patients 4, now 2 years old, probably due to the late diagnosis." should read "Growth and psychomoter development (Brunet-Lezine or Griffiths' scale) are normal in patients 1, 2, 3, and 4 (Table 2), whereas psychomotor development is delayed in patient 5, now 2 years old, probably due to the late diagnosis."

Nasogastric Drip Feeding as the Only Treatment of Neonatal Maple Syrup Urine Disease

The ideal management for severe metabolic decompensation in maple syrup urine disease (MSUD) is still debated. Most papers published in the past 20 years suggest the use of extracorporeal techniques combined with adequate caloric intake1-5 As renal clearance is poor,6 repeated and prolonged blood exchange transfusions (ETs), peritoneal dialysis, and hemodialysis have proved useful in removing branched-chain amino and keto acids (BCAAs, BCKAs) from plasma.3,7,8 However, single case reports have described good results in patients given nutritional treatment alone,9-11 and recently it has been suggested that extracorporeal techniques should be used only in selected cases, when diagnosis is made after 8 to 10 days of life and the condition is presumably life-threatening.12,13

Unique EEG pattern (comb-like rhythm) in neonatal maple syrup urine disease

A unique electroencephalographic pattern (the comb-like rhythm) is described in an infant with neonatal (classic) maple syrup urine disease. This pattern consists of bursts and runs of 5–7 Hz primarily monophasic negative (mu-like) activity in the central and central-parasagittal regions during wakefulness and sleep with the most abundant bursts occurring during quiet (non-REM) sleep. This pattern appeared during the first 2 weeks of life and was absent in the recording obtained 40 days after the initiation of dietary therapy. In the proper clinical setting this electroencephalographic pattern is diagnostic of maple syrup urine disease and can be distinguished from similar patterns occurring in normal infants and those with other encephalopathies.

Hudson memorial lecture

AbstractTherapeutic guidelines have been obtained from a restrospective review of 41 patients affected with organic acidaemias, 16 patients with neonatal maple syrup urine disease (MSUD), 11 methylmalonic acidaemia, (MMA) seven propionic acidaemias (PA) and seven isovaleric acidaemias (IVA), and by comparing this personal series with similar reported cases. The emergency treatment of these organic acidurias in the neonate has to main goals: toxin removal and anabolism. Anabolism is always promoted by early diet therapy. The best method of toxin removal depends on the nature of the defect; peritoneal dialysis with exchange transfusions or multiple or prolonged exchange transfusions in MSUD and in PA, diuresis and exchange transfusions in MMA and glycine supplementation in IVA. Vitamin supplementation (thiamine 20 mg, biotin 10 mg, B12 2 mg and riboflavin 100 mg) should be tried in all cases although the neonatal forms of these defects are very rarely vitamin responsive. Additional treatments such as carnitine or insulin may prove to be useful.