1/33. Partial lipodystrophy presenting with myopathy.A girl with partial lipodystrophy is described presenting with muscle weakness and developmental delay several years before lipoatrophy became apparent. The patient subsequently developed epilepsy, fatty liver, secondary amenorrhoea, hirsutism, insulin-resistant diabetes mellitus, hyperlipidaemia, and hypothyroidism. She remains weak with poor exercise tolerance. This case illustrates an atypical presentation of the Barraquer-Simon syndrome.- - - - - - - - - - ranking = 1keywords = liver (Clic here for more details about this article) |
2/33. Necrotizing encephalopathy and macrocephaly with mitochondrial complex I deficiency.A neonate presented in the first weeks after birth with vomiting. He was unresponsive, with hypotonia, macrocephaly, and lactic acidosis. The cranial computed tomographic scan revealed a hypodense brain, with increased brain volume and extensive cerebral edema. He died at 6 weeks of age; postmortem examination revealed necrotizing encephalopathy with marked brain edema, spongiosis, thalamic necrosis, and basal ganglia calcifications. Enzyme studies of the mitochondrial respiratory chain revealed complex I deficiency in both muscle and liver.- - - - - - - - - - ranking = 1keywords = liver (Clic here for more details about this article) |
3/33. Fatal acidosis in a neonate with Pearson syndrome.We report a neonate who presented with hypotonia, hypoglycemia, and severe lactic acidosis. The patient's acidosis did not respond to bicarbonate replacement and dialysis. Postmortem liver samples revealed portal dilatation, fibrosis, canalicular proliferation, cholestasis, and hepatocellular hemosiderosis. Vacuolization of bone marrow precursors suggested a diagnosis of Pearson syndrome. A common mitochondrial dna deletion of 4,978 bp was found. We emphasize that Pearson syndrome should be considered in neonates with lactic acidosis despite absence of anemia.- - - - - - - - - - ranking = 1keywords = liver (Clic here for more details about this article) |
4/33. Fetal-onset severe skeletal muscle glycogenosis associated with phosphorylase-b kinase deficiency.We report on a premature newborn girl delivered after 32 weeks of gestation by cesarean section after sparse limb movements, fetal tachycardia and late heart rate decelerations had suggested fetal distress. Following 1 day of mechanical ventilation, adequate pulmonary gas exchange was achieved by spontaneous breathing. Main symptoms were virtually complete absence of spontaneous movements, increased flexor tonus of the extremities, and hypotonia of the trunk. Inability to suck or swallow required nasogastric gavage feeding. There were no hypoglycemic episodes. echocardiography revealed normal myocardial function. creatine kinase was 237 U/I at 2 days of life, declining to normal values thereafter. Muscle biopsy revealed increased glycogen storage with subsarcolemmal glycogen deposits and low phosphorylase-a activity while total phosphorylase was normal after in vitro activation, suggestive of phosphorylase-b kinase deficiency. No mutation was detected in exon 1 of the myophosphorylase gene. No psychomotor development was observed, and the infant died of central apnea at 3 months of age.- - - - - - - - - - ranking = 1keywords = liver (Clic here for more details about this article) |
5/33. Very long-chain acyl-coa dehydrogenase deficiency in an infant presenting with massive hepatomegaly.A 9-month-old boy with presented generalised hypotonia, severe cardiomyopathy, and massive liver enlargement following 10 days of viral gastroenteritis. He was diagnosed with very long-chain acyl-coa dehydrogenase deficiency and has been successfully treated.- - - - - - - - - - ranking = 1025keywords = hepatomegaly, liver (Clic here for more details about this article) |
6/33. Deep venous thrombosis as a result of hypotonia secondary to intrathecal baclofen therapy: a case report.After repair of the catheter of an implanted intrathecal baclofen (ITB) delivery system, a 17-year-old man with cerebral palsy developed acute lower-extremity hypotonia. Subsequently, he complained of right lower-extremity pain followed by swelling in the popliteal fossa. Doppler studies showed a thrombus extending from the femoral vein to the popliteal vein with probable extension into the distal portion of the leg. Deep vein thrombosis, an uncommon event in children, has not been reported previously as a complication of acute hypotonicity and immobilization associated with ITB, regardless of age. Clinicians caring for children being treated with ITB should be alert to this potential complication so that early diagnostic and treatment measures can be provided. In certain circumstances, it may be appropriate to consider prophylaxis against thrombosis.- - - - - - - - - - ranking = 1keywords = liver (Clic here for more details about this article) |
7/33. Monopharmacologic general anaesthesia with sevoflurane in paediatric patient with prader-willi syndrome.prader-willi syndrome (PWS) is a genetic disease caused by a loss of paternal genes located in chromosome 15. Children affected by this syndrome often have preterm delivery; during childhood the hallmarks are: severe infantile hypotonia and feeding problems. Afterward, neurologic manifestations, endocrine signs and dysmetabolic abnormalities are usually seen together with craniofacial manifestations and musculoskeletal abnormalities. obesity causes sleep abnormalities including sleep apnea. The case we present is of a 5 year old child (CA) scheduled for strabismus surgery. The child has a lot of typical (PWS) signs. A number of anaesthesiologic problems are associated with (PWS). Some of them relate to obesity, others to facial dysmorphism. Moreover, the syndrome may give a prolonged and exaggerated response to every sedative drug. P.W.S. is also characterized by thermoregulatory disorders. sleep apnea occurs often. Considering all these problems, we planned a monopharmacologic anaesthesiologic procedure using sevoflurane.- - - - - - - - - - ranking = 1keywords = liver (Clic here for more details about this article) |
8/33. hemangioma of the umbilical cord: report of a case.A 31-year-old woman with a large placental tumor underwent a caesarean section. After delivery, the lesion, detected by ultrasound examination, was found to originate from the umbilical cord. A live female infant with cyanosis, hypotonia and diffuse edema was delivered. A review of the literature, which revealed 31 cases of umbilical cord hemangioma, showed that this tumor has a polymorphous presentation. Some fetuses and infants died from various causes, indicating that a close follow-up is necessary in these pregnancies- - - - - - - - - - ranking = 2keywords = liver (Clic here for more details about this article) |
9/33. Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement.Three children displaying hypotonia, cardiac involvement and defects of the mitochondrial respiratory chain complexes are reported. The first case showed severe neonatal hypotonia, failure to thrive, hepatomegaly, dilation of the right cardiac cavities, profound lactic acidosis and amino aciduria. The boy died at the age of 7 weeks. In the second case hypotonia, severe cardiomyopathy, cyclic neutropenia, lactic acidosis and 3-methylglutaconic aciduria occurred. The boy died at the age of 27 months. The third case presented at the age of 16 months as an acute hypokinetic hypertrophic cardiomyopathy with transient hypotonia and mild lactic acidosis. Spontaneous clinical remission occurred. In all cases muscle biopsy was performed. Morphological studies failed to show ragged-red fibers but there was lipid storage myopathy and decreased cytochrome c oxidase activity. Biochemical studies confirmed the cytochrome c oxidase deficiency in muscle in all cases. It was associated with complex I III deficiency in case 1 and with severe deficits of all respiratory chain complexes in case 2. Post-mortem studies in case 1 indicated that complex IV was reduced in the liver but not in the heart and quantitative analysis of mtDNA revealed a depletion in muscle. Cases 1 and 2 shared some clinical features with fatal infantile myopathy associated with cytochrome c oxidase deficiency, while case 3 displayed a very unusual clinical presentation. The histochemical enzyme reaction of cytochrome c oxidase is useful for the diagnosis of mitochondrial myopathy because ragged-red fibers may be lacking. Finally, biochemical measurement of the different mitochondrial respiratory chain complexes is required because multiple defects are frequent and occasionally related to mtDNA depletion.- - - - - - - - - - ranking = 257keywords = hepatomegaly, liver (Clic here for more details about this article) |
10/33. Neonatal seizures and severe hypotonia in a male infant suffering from a defect in peroxisomal beta-oxidation.In this paper, we describe a baby male born to healthy non-consanguineous parents presenting at birth with hypotonia and seizures. Additional salient clinical features included the development of glaucoma, the absence of significant facial dysmorphism and the absence of liver enlargement or renal cysts. The patient died at the age of 3 months. At autopsy, liver fibrosis and kidney glomerulosclerosis were noted. Neuropathological findings included pachygyria of the olivary nuclei and cerebellar neuronal heterotopias. There was no evidence for a demyelinating process. Biochemically, the patient was found to have elevated plasma levels of very-long-chain fatty acids (VLCFA) and abnormal bile acid intermediates, whereas other indicators of peroxisomal function (plasmalogen biosynthesis and plasma pipecolic acid) were normal. catalase staining of a liver biopsy specimen revealed peroxisomes to be present in normal numbers, although some were abnormally large. Trilamellar inclusions typical of a peroxisomal fatty acid oxidation defect were present in macrophages. Indeed, beta-oxidation of the very-long-chain fatty acid hexacosanoic acid (C26:0) was found to be strongly deficient. Fatty acyl-coa oxidase activity in the patient's liver was normal, however. Furthermore immunocytochemical studies using antibodies against acyl-coa oxidase, bifunctional protein and peroxisomal thiolase, revealed the normal localization of all three enzyme proteins within the peroxisomes. We suggest that our patient has a selective peroxisomal beta-oxidation defect, a recently identified heterogeneous group of early-onset peroxisomal disorders distinct from the zellweger syndrome and other generalized peroxisomal disorders.- - - - - - - - - - ranking = 4keywords = liver (Clic here for more details about this article) |
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