A case of Fukuyama-type congenital muscular dystrophy with acute carnitine deficiency triggered by fever, vomiting, and gastrointestinal bleeding.

BACKGROUND: Carnitine is essential for transporting long-chain fatty acids into mitochondria and promotes energy metabolism via ß-oxidation of long-chain fatty acids. Although carnitine is also present in the peripheral blood, 98% of total carnitine is stored in muscle tissue. Neuromuscular diseases accompanied by muscle atrophy are likely to lead to secondary carnitine deficiency, owing to the reduced amount of total carnitine stored in the body. CASE PRESENTATION: An 8-y-old Japanese boy with Fukuyama-type congenital muscular dystrophy accompanied by severe psychomotor retardation had been constantly bedridden, suffered from dysphagia, and had been fed through a gastrostomy tube since the age of 1 y. Regular oral carnitine supplementation (5 mg/kg/d of levocarnitine) was initiated at the age of 7 y, which increased serum carnitine value to within the normal range (serum total carnitine concentration, 58.5-60.9 µmol/L; acylcarnitine concentration, 45.8-55.0 µmol/L; free carnitine concentration, 5.9-12.7 µmol/L). He developed a fever, vomiting, and gastrointestinal bleeding at the age of 8 y. He fell into a coma and visited an emergency room 12 h later. Hypoglycemia and hypocarnitinemia (serum total carnitine concentration, 3.7 µmol/L; acylcarnitine concentration, 2.9 µmol/L; free carnitine concentration, 0.8 µmol/L; acyl-to-free carnitine ratio, 3.6) were observed, and he was found to be negative for urinary ketone bodies. CONCLUSIONS: Neuromuscular diseases accompanied by muscle atrophy may lead to acute carnitine deficiency, even if the serum carnitine concentration is within the normal range before onset. During sick days, it may be necessary to modify a patient's treatment, such as increasing both oral supplementation and intravenous administration of carnitine.

The muscle findings in a pediatric patient with live attenuated oral polio vaccine-related flaccid monoplegia.

A pediatric patient, who was given live-attenuated oral polio vaccine twice without distinct gait disturbance during infancy, begun to present limp at 3 years. His gait disturbance became remarkable with aging. At 7 years, he was unable to dorsiflex the left ankle, and presented flaccid monoplegia of the left lower extremity, and the left Achilles tendon reflex was diminished. Magnetic resonance imaging revealed multiple crack-lines in the left anterior tibial muscle, but was unable to detect any distinct lesion at responsible level of L4, L5 and S1 anterior horn cells' degeneration. Electromyography showed continuous fibrillation potentials, but muscle biopsy presented nearly normal in this muscle. The serum levels of polio antibody type 1 and type 2 titers were elevated 64× respectively, while the type 3 antibody titer was not elevated 4×. This patient was diagnosed as live attenuated oral polio vaccine-related flaccid monoplegia, with mild clinical course.

A new cholesterol biosynthesis and absorption disorder associated with epilepsy, hypogonadism, and cerebro-cerebello-bulbar degeneration.

BACKGROUND: Cholesterol is one of the main components of human cell membranes and constitutes an essential substance in the central nervous system, endocrine system, and its hormones, including sex hormones. PATIENT: A 19-year-old male patient presented with failure to thrive, psychomotor deterioration, intractable epilepsy, hypogonadism, and cerebro-cerebello-bulbar degeneration. His serum level of cholesterol was low, ranging from 78.7 to 116.5 mg/dL. RESULTS: The serum concentrations of intermediates in the cholesterol biosynthesis pathway, such as 7-dehydrocholesterol, 8-dehydrocholesterol, desmosterol, lathosterol, and dihydrolanosterol, were not increased. In addition, the levels of the urinary cholesterol biosynthesis marker mevalonic acid, the serum cholesterol absorption markers, campesterol and sitosterol, and the serum cholesterol catabolism marker, 7α-hydroxycholesterol, were all low. CONCLUSIONS: A serum biomarker analysis indicated that the patient's basic abnormality differed from that of Smith-Lemli-Opitz syndrome and other known disorders of cholesterol metabolism. Therefore, this individual may have a new metabolic disorder with hypocholesterolemia because of decreased biosynthesis and absorption of cholesterol.

Characterization and chronological changes of preterm human milk gangliosides.

OBJECTIVE: Gangliosides are present in high concentrations in the nervous tissue, and some are observed in small amounts in many extraneural tissues and body fluids. Human milk may play important roles in energy supplementation, prophylaxis of infection, and brain development. For preterm infants, human milk gangliosides are also very important substances during the early lactation stage. However, there are no data on human milk gangliosides from mothers at preterm delivery. We investigated the characterization of gangliosides and chronologic changes in human preterm milk earlier than 30 wk of gestation from 1 to 60 d after birth. METHODS: Forty-one samples were analyzed by high-performance thin-layer chromatography and a microtechnique using 1 mL of milk from each lactation and compared with 61 full-term human milk samples. RESULTS: Total lipid-bound sialic acid of human milk gangliosides after preterm delivery showed a peak concentration at 2 to 3 d postpartum and then remained at a high concentration until approximately 10 d. GD3 was the major ganglioside in the colostrum until approximately 7 to 10 d postpartum. GM3 was scarcely detected until 7 d postpartum and then increased gradually. There was no difference in the GD3 concentration per 1 mL of human milk between preterm and full-term human milk until approximately 5 to 8 d postpartum. After that time, the GD3 concentration decreased sharply. In contrast, the total concentrations of GM3 per 1 mL of human milk from mothers after preterm delivery were lower than those from mothers after full-term delivery throughout the entire period examined. CONCLUSION: This finding is essential to elucidate the composition of human milk gangliosides after preterm delivery, which may contribute to the analysis of the physiologic composition and formulation appropriate preterm infant nutrition.

The characterization of cerebrospinal fluid and serum cytokines in patients with Kawasaki disease.

BACKGROUND: The central nervous system (CNS) inflammation of Kawasaki disease (KD) has not been sufficiently evaluated in spite of the complications of irritability and CSF pleocytosis. PATIENTS AND METHODS: Cerebrospinal fluid (CSF) and serum inflammatory cytokine values were simultaneously examined in 10 patients (2.6 +/- 2.1 year of age) during the acute phase. They were all irritable and demonstrated mild consciousness disturbance. RESULTS: The CSF IL6 was elevated (>3.0 pg/mL) in 6 patients, and 4 of them showed higher CSF than serum values. The CSF sTNFR1 was elevated (>0.5 microg/mL) in 6 patients, and 1 showed higher CSF than serum values. These CSF cytokine (IL6; 81.4 +/- 192.8 pg/mL, sTNFR1; 1.1 +/- 0.8 microg/mL) and CSF/serum ratio (IL6; 2.8 +/- 5.2, sTNFR1 0.4 +/- 0.4) in patients with KD were the same as those of patients with acute encephalitis/acute encephalopathy. CONCLUSIONS: The differences in the inflammatory cytokine value between CSF and serum suggest that the degree of systemic vasculitis is different between CSF and the circulating blood, and some patients with KD showed a higher degree of CSF inflammation.