Disseminated Peritoneal Leiomyomatosis with Atypical Features and Comorbid Uterine STUMP: a Case Report and Review of the Literature

Disseminated peritoneal leiomyomatosis (DPL) is a very rare benign disease, characterized by multiple solid subperitoneal or peritoneal smooth muscle nodules in abdominopelvic cavity and malignant transformation is extremely rare. Also, uterine smooth muscle tumors of unknown malignant potential (STUMP) is a rare tumor, which is regarded as subclassification in uterine smooth muscle tumors between benign and malignant criteria. Pathogenesis of DPL is uncertain, but increasing evidence of iatrogenic cause including laparoscopic myomectomy has been reported.We report a case of a 28-year-old female with previous history of laparoscopic myomectomy diagnosed with DPL with atypical feature and concurrent uterine STUMP using computed tomography (CT) and magnetic resonance imaging (MRI), as well as present a review of the literature.

A Korean Female Patient with Thiamine-responsive Pyruvate Dehydrogenase Complex Deficiency Due to a Novel Point Mutation (Y161C)in the PDHA1 Gene

Pyruvate dehydrogenase complex (PDHC) deficiency is mostly due to mutations in the X-linked E1alpha subunit gene (PDHA1). Some of the patients with PDHC deficiency showed clinical improvements with thiamine treatment. We report the results of biochemical and molecular analysis in a female patient with lactic acidemia. The PDHC activity was assayed at different concentrations of thiamine pyrophosphate (TPP). The PDHC activity showed null activity at low TPP concentration (1 x 10(-3) mM), but significantly increased at a high TPP concentration (1 mM). Sequencing analysis of PDHA1 gene of the patient revealed a substitution of cysteine for tyrosine at position 161 (Y161C). Thiamine treatment resulted in reduction of the patient's serum lactate concentration and dramatic clinical improvement. Biochemical, molecular, and clinical data suggest that this patient has a thiamine-responsive PDHC deficiency due to a novel mutation, Y161C. Therefore, to detect the thiamine responsiveness it is necessary to measure activities of PDHC not only at high but also at low concentration of TPP.

Mitochondrial Respiratory Complex I Deficiency Simulating Spinal Muscular Atrophy

Two female patients with clinical features resembling spinal muscular atrophy are introduced. Patient 1 presented with hypotonia and proximal weakness of extremities at the age of 4 months. The electromyography revealed motor neuronopathy suggestive of spinal muscular atrophy. Patient 2 presented with severe hypotonia, motor weakness, and joint contractures since birth. The muscle biopsy finding was consistent with spinal muscular atrophy. However, deletions in the survival motor neuron genes and the neuronal apoptosis inhibitor protein genes were not found in both the patients. They finally showed the clinical features against spinal muscular atrophy; epileptic seizures, cardiomyopathy, and spasticity. We measured the mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts, whose results were suggestive of isolated complex I deficiency in both the patients. In conclusion, for the patients who have clinical features resembling SMA without any deletions in the SMA genes it should be considered a possibility of the mitochondrial respiratory chain complex I deficiency.

The Amino Acid Compositions of Formula for Children with Inherited Metabolic Disorder

PURPOSE: This study aimed to determine the amino acids composition, safety and efficacy of formulas recently developed by Korean dairy companies for children with inherited metabolic disorder. METHODS: The determination of amino acids concentration was performed on eight Korean formula samples. The samples were hydrolyzed with 6N HCL or performic acid and analyzed by amino acid analyzer. RESULTS: No phenylalanine, methionine or leucine was observed in PKU-1 and PKU-2 Formulas, Methionine-Free and Leucine-Free Formula, respectively. BCAA-Free Formula was free from leucine, isoleucine, and valine and MPA Formula did not contain methionine and valine. Protein-Free formula did not include any amino acids. UCD Formula contained arginine but was free of alanine, aspartic acid, glutamic acid, glycine, histidine, proline and serine. Methionine-Free Formula contained higher amounts of cystine and tyrosine was higher in PKU-1 and 2 Formulas. The amounts of isoleucine and threonine were minimal in MPA Formula. CONCLUSION: This study confirmed that the eight special formulas, developed for the first time by a Korean dairy company for children with inherited metabolic disorder contain appropriate amino acids with proper contents. Both the total amino acid amounts and specific amino acid concentrations of the formulas were appropriate for related diseases, which could be used safely by the patients with inherited metabolic disorder. For UCD Formula that contains arginine, we suggest that arginine be removed from the formula in order to use for any urea cycle defect patients before the specific diagnosis is made.