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Query: UMLS:C0023380 (lethargy)
 5,697 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hyperinsulinism, although rare, is the most common cause of persistent hyperinsulinaemic hypoglycaemia in infancy. Because of persistent hypoglycaemia, serious difficulties are encountered in the long term management of this condition. A male neonate, after an uncomplicated full-term pregnancy, had been admitted to another hospital with convulsions on the third post-natal day. Meningitis had been suspected at that time and treated with phenobarbital and he had been discharged from the hospital. At three-months old he was referred to our department for persistent convulsions and lethargy. His parents were of 1st degree consanguinity. His blood glucose level was found to be 24 mg/dl (1.33 mmol/L). Because of the dangerously high insulin level during hypoglycaemia (insulin/glucose > 0.3), the absence of ketonuria, and the need for a high dose of glucose infusion (> 15 mg/kg/min) to achieve normoglycaemia and a glycaemic response to glucagon despite the hypoglycaemia, a diagnosis of persistent hyperinsulinaemic hypoglycaemia of infancy was made. Since maximal doses of prednisone, glucagon, diazoxide, octreotide and high infusion of glucose were ineffective in achieving normoglycaemia, a subtotal (80%) pancreatectomy was done. Postoperatively intermittent hypoglycaemic episodes continued. These were controlled with low doses of octreotide. Histology revealed diffuse adenomatous hyperplasia (nesidoblastosis). The boy is now in the sixth post-operative month and developing normally.
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PMID:Persistent hyperinsulinaemic hypoglycaemia of infancy: case report. 1263 64

We reported three term or near-term infants with parasagittal infarcts. Their Apgar scores were low and the amniotic fluid was meconium-stained. Resuscitation was necessary immediately after birth, but they were not stuporous and no neurological abnormalities were recognized on admission. They showed metabolic acidosis and transient hypoglycemia, and two showed hematoemesis. Seizures were observed between 2 and 15 h of age in all of them. Electroencephalography demonstrated moderate or severe depression, and CT demonstrated bilateral abnormal low densities in the border zones of the middle and posterior cerebral arteries. Two of them had mental retardation and epilepsy, although the other exhibited normal development. Our infants suggest that neonatal seizures can also occur in infants with hypoxic ischemic encephalopathy without apparent neurological abnormalities.
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PMID:Hypoxic ischemic encephalopathy associated with neonatal seizures without other neurological abnormalities. 1268 4

We report two infants with an inborn error of cobalamin (vitamin B(12)) metabolism whose clinical presentation in the first month of life strongly suggested bacterial or viral sepsis. The absence of any acute metabolic derangement (acidosis, hyperammonemia, hypoglycemia, or ketosis) in association with clinical features suggesting sepsis (lethargy, obtundation) could impede the correct diagnosis of cobalamin C (cblC) disorder. In addition, this is the first documentation of cerebrospinal fluid hyperhomocysteinemia in cblC defect that was highly increased and is likely to be associated with neurotoxicity in cblC patients.
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PMID:Potential for misdiagnosis due to lack of metabolic derangement in combined methylmalonic aciduria/hyperhomocysteinemia (cblC) in the neonate. 1284 33

Dumping syndrome is a sequel of gastric surgery in adults and Nissen fundoplication in children. The syndrome is characterized by various gastrointestinal symptoms as well as irritability, diaphoresis and lethargy. Shortly after a meal, symptoms are associated with hyperglycemia (early dumping), followed by late dumping symptoms associated with reactive hypoglycemia. Several therapeutic and dietary manipulations failed to control these symptoms in previous reports as well as in an infant we have followed after Nissen fundoplication. Acarbose, an alpha-glucosidase inhibitor, has been used sporadically in adults after gastric surgery, but only once in children. In most of these studies, the effect of acarbose (on reactive hypoglycemia) was evaluated over several hours postprandially or after oral glucose load. In our study, we recorded glucose dynamics by a continuous glucose monitor system over 2 to 3 days before and during acarbose treatment, while the patient was on a well-controlled diet. These measurements (720 before and 832 on therapy) suggested that both early and late dumping symptoms are causally related to the rate of glucose elevation and decline, rather than to glucose peak and nadir, respectively. Acarbose attenuated both postprandial glucose hyperglycemia and reactive hypoglycemia, which subsequently led to a significant reduction in dumping symptoms. In a follow-up of 14 months, acarbose was well tolerated and the frequency of dumping symptoms was remarkably reduced.
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PMID:Acarbose treatment of infant dumping syndrome: extensive study of glucose dynamics and long-term follow-up. 1294 6

Hypoglycemia in the neonatal period is a well-recognized phenomenon, but many authors have commented upon the infrequent association of symptoms attributable to it. Six infants were seen who appeared normal at birth but who, between 24 and 72, hours of age, developed apnea, irritability, lethargy, muscular twitchings and convulsions. Blood sugar concentrations of 10 mg./100 ml. or less were found in each case. The mothers of four of the babies had toxemia of pregnancy. Three babies were premature. The hypoglycemia was self-limiting in all cases, and four of the babies recovered completely without sequelae. The other two showed evidence of permanent brain damage, but it is not known whether this was the cause of their symptoms or the result of the hypoglycemia. It is concluded that hypoglycemia may cause neurological symptoms in the newborn period and that treatment by glucose administration is necessary. Whether symptomless hypoglycemia requires treatment remains an open question.
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PMID:Hypoglycemia associated with symptoms in the newborn period. 1395 28

A 14-year-old spayed female domestic shorthair cat was evaluated for weakness, lethargy, decreased appetite, diarrhea, weight loss, and seizures. On physical examination, the cat appeared disoriented and had an inconsistent menace response. An insulinoma was diagnosed on the basis of normal serum insulin activity in conjunction with profound hypoglycemia and histologic examination (with immunohistochemical staining for chromogranin A and insulin) of a pancreatic mass that was removed surgically. Blood glucose concentration was within reference limits after surgery. However, neurologic abnormalities persisted, and the cat was euthanatized. Chronic hypoglycemia, associated with insulinomas, can cause irreversible neuronal changes in cats; therefore, rapid diagnosis and treatment of hypoglycemic conditions are of critical importance.
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PMID:Hypoglycemia and irreversible neurologic complications in a cat with insulinoma. 1450 96

A six-week-old male infant was admitted for investigation of cholestasis and pale stools. He became lethargic and apnoeic with prolonged seizures after a percutaneous liver biopsy. Subsequent investigations showed conjugated hyperbilirubinaemia, elevated liver enzymes, and hypoglycaemia. The radinuclide hepatobiliary scintigraphy was non-excretory. After an operative cholangiogram, the infant developed Addisonian-like crisis with bradycardia, hypotension, respiratory distress, metabolic acidosis, hypoglycaemia, hyponatraemia, and hyperkalaemia. Blood investigations confirmed congenital hypopituitarism. Hormone replacement therapy with L-thyroxine and cortisone acetate resulted in dissolution of jaundice and the reduction of the liver size.
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PMID:Addisonian-like crisis in congenital hypopituitarism and cholestatic jaundice. 1456 50

A 5-year-old castrated male ferret began to exhibit signs of episodic lethargy, hindlimb weakness, and ataxia along with mild to moderate weight loss. Serial blood glucose measurements revealed persistent hypoglycemia. The animal was euthanized and a necropsy performed. Discrete pancreatic nodules were discovered and submitted for histopathologic analysis. One of the nodules was found to contain pancreatic islet cell tumors; other areas contained foci of islet cell and acinar hyperplasia. Pancreatic islet cell tumors, commonly referred to as insulinomas, are common tumors in ferrets and typically occur in middle-aged and older animals. These animals, when properly diagnosed, can be managed either medically or surgically or, often, by a combination of medical and surgical treatments, and their lives greatly extended.
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PMID:Pancreatic islet cell tumor in a domestic ferret. 1461 62

OBJECTIVE: The aim of this work was to evaluate a protocol for investigation of Inborn Errors of Metabolism (IEM) in children who are acutely ill.METHODS: Forty six children with clinical suspicion of a metabolic disorder were studied during 2 years. They were selected through request for investigation of IEM from Pediatrics or Neonatal Intensive Care Units located in the metropolitan area of Porto Alegre. Criteria for inclusion were presence of one or more of the following clinical alterations, without defined etiology: Metabolic acidosis, electrolyte disturbances, hypoglycemia, seizures, lethargy, liver disfunction, family history suggestive of IEM. The protocol included clinical evaluation, compulsory tests (performed in all patients) and optional tests (performed selectively according to the results from the first tests or through specific clinical hypothesis).RESULTS: Six cases of IEM were identified: galactosemia, non-ketotic hyperglycinaemia, propionic acidemia, isovaleric acidemia, 3-hydroxy-3-methylglutaric acidemia and deficiency of 3-ketothiolase deficiency.CONCLUSIONS: The frequency of organic acidurias in this group was 4/46 (8.7%), which justifies the inclusion of organic acids analysis among the first line exams in acutely and severely ill children with undefined etiology. The relatively high frequency of IEM (6/46 or 13%), which is comparable to the ones observed in other studies within high risk groups, indicates that the protocol suggested is efficient and justifies the systematic investigation of IEM in not explained critically ill children.
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PMID:[Application of a clinical and laboratory protocol for the investigation of inborn errors of metabolism among critically ill children] 1464 47

3-Hydroxy-3-methylglutaric aciduria (OMIM 246450) is an autosomal recessive inborn error of the final step of leucine catabolic and ketogenic pathways, caused by deficiency of the enzyme 3-hydroxy-3-methylglutaryl CoA lyase (HL, HMGCL, EC 4.1.3.4). Clinically, deficiency of the enzyme results in metabolic acidosis, hyperammonemia, and infantile hypoketotic hypoglycaemia usually presenting during the first year of life with vomiting, lethargy, hypotonia, and sometimes with respiratory distress and coma. HL deficiency is relatively common in Arabic populations but seems to be rare in Europe. Our recent experience suggests that HL deficiency is the most frequent organic aciduria in the Portuguese population. We herein report on the molecular study of the HMGCL gene in 11 cases originated from the Northern area of Portugal. We detected the E37X (c.109G > T) mutation, in 84.1% of the alleles, one allele carried the V168fs(-2) (504_505delCT) and other allele the novel D204N (c.610G > A) mutation. The mutation of the last allele remained unidentified. The relatively high frequency of the "common" HMGCL Portuguese mutation makes useful the development of a rapid and specific molecular confirmation of new cases with HL deficiency in our country.
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PMID:The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency. 1530 32


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