No abstract

Pyruvate dehydrogenase complex (PDHC) deficiency is known to cause congenital lactic acidosis. The case of a 9-month-old female infant with PDHC deficiency caused by a mutation in exon II of the pyruvate dehydrogenase (PDH) EIa gene is described. Her facial features were as follows: frontal bossing, upslanting palpebral fissures, a short upturned nose, a long philtrum and low set ears. These anomalies are characteristic not only of a malformation syndrome or chromosomal aberration, but also of PDHC deficiency. Because PDHC deficiency requires early treatment, metabolic disorders should be kept in mind in a patient with dysmorphic features. Further, she had multiple minor anomalies including bilateral inguinal herniae, an umbilical hernia and small hands and feet, which have not been described in previous reports.

to a severe state, causing death.2o,21 Therefore, the prolonged administration of valproic acid is thought to be the cause of acute pancreatitis in this case.

Reading epilepsy is rare. We report a 14-year-old right-handed Japanese boy who had had jaw jerking only while reading since age 12 years. The episodes occurred every time he read an English textbook and sometimes during prolonged reading of a Japanese textbook. The jaw jerking evolved to generalized tonic-clonic seizures (GTCS) on only two occasions during prolonged reading aloud. Routine EEGs showed no abnormality. After a few minutes of reading, however, the EEG showed bilateral 2-Hz, 150-microV spike-wave complexes with left frontotemporal accentuation, accompanied by jaw jerking. Ictal single photon emission computed tomography (SPECT) with [99Tc]hexamethylpropylene amine oxime (HMPAO) showed focal hyperperfusion of the frontal lobes bilaterally and of the left temporal area. Interictal SPECT and magnetic resonance imaging (MRI) were normal. The combination of valproate (VPA) and clonazepam (CZP) almost eliminated his symptoms. Ictal SPECT is a useful technique for seizure localization in reading epilepsy.