Tuberous sclerosis complex and Wolff-Parkinson-White syndrome

This report highlights the association between tuberous sclerosis and Wolff-Parkinson-White syndrome. Ten patients with concurrent diagnoses of Wolff-Parkinson-White syndrome and tuberous sclerosis were identified. Wolff-Parkinson-White syndrome presented early in life, nine cases being diagnosed in the first year. Eight of the 10 cases were male. In eight cases, the syndrome was associated with supraventricular tachycardias, and in nine with cardiac rhabdomyomata. One child died from cardiac failure secondary to obstruction of the left ventricular outflow tract by a rhabdomyoma. Five of nine survivors showed resolution of Wolff-Parkinson-White syndrome on follow up. The accessory pathway was localised in nine patients from surface electrocardiograms: six children had left sided pathways and three had right sided pathways.     

Cardiac rhabdomyomas and their association with tuberous sclerosis

A search for children presenting with signs or symptoms of cardiac rhabdomyomas was made through members of the paediatric section of the British Cardiac Society in order to establish their birth incidence, presenting features, clinical course, and the frequency of a concurrent diagnosis of tuberous sclerosis. Fifteen children were identified and 12 had tuberous sclerosis (80%). Heart failure was the presentation in six, five of whom died; six presented because of a murmur and three because of arrhythmias. The prevalence of echocardiographic evidence of cardiac rhabdomyomas in a population of patients with tuberous sclerosis was established. Twenty individuals had echocardiography and eight had echodensities consistent with cardiac rhabdomyomas. It is concluded that the minimum birth incidence for children presenting because of the effects of cardiac rhabdomyomas is 1/326,000 and a minimum of 80% have tuberous sclerosis. In a population of patients with tuberous sclerosis a minimum of 60% under 18 years have cardiac rhabdomyomas.     

Muscular sufficiency, serum protein, enzymes and bioenergetic studies (31-phosphorus magnetic resonance spectroscopy) in chronic malnutrition

Muscle sufficiency was significantly lower in 1336 children with chronic malnutrition of moderate to severe degree. Eighteen children with a chronic moderate degree of malnutrition and 8 well-nourished, age-matched controls were selected for biochemical and 31-phosphorus magnetic resonance spectroscopy (31 -P MRS) studies. The results showed that: (a) serum total protein, albumin, iron, calcium and inorganic phosphate were similar in both groups; (b) serum enzyme levels were significantly increased in the malnourished group; (c) 31-P MRS showed significantly higher means for total ATP, β-ATP, a-ATP and inorganic phosphate for the malnourished compared to the control group. In chronic malnutrition, proteins are maintained by degradation in muscle resulting in release of amino acids and enzymes. 31-P MRS studies showing increases in total ATP, β-ATP and inorganic phosphate and a decrease in phosphocreatine suggest that ATP is maintained at the cost of phosphocreatine.     

A review of computerized tomography in blunt abdominal trauma at Christchurch Hospital

A review was undertaken of computerized tomography (CT) of the abdomen, performed between March 1993 and December 1994 for blunt abdominal trauma at Christchurch Hospital. CT findings were correlated with the clinical outcome. The outcome was either recovery from an abdominal point of view with or without laparotomy, or postmortem. A total of 116 CTs were reviewed, of which 76 were abnormal. CT was highly sensitive and specific for a variety of abdominal traumatic lesions. There were 1 false positive and 4 false negatives (only 2 of these significant). There was 1 non-therapeutic laparotomy based on CT findings. There was only 1 case of delayed treatment based on CT results. Three patients had unexplained findings of pneumoperitoneum. Care should be taken when interpreting the presence of free intraperitoneal air on CT scan. The possibility of missed bowel perforation should be considered, especially in the presence of free intra-abdominal fluid and no solid organ injury to account for it. CT scans are useful in the conservative management of solid organ injuries.     

INTERRELATION BETWEEN FATTY ACID OXIDATION AND CONTROL OF GLUCONEOGENIC SUBSTRATES IN SMALL-FOR-GESTATIONAL-AGE (SGA) INFANTS WITH HYPOGLYCEMIA AND WITH NORMOGLYCEMIA

ABSTRACT. Twelve SGA infants were studied from 4 hours after birth (day 1), before and for 4 hours after injection of 0.5 g of fat/kg b. w. (Intralipid®, IL). Eight infants were restudied after 24 hours (day 2). A positive correlation was found between initial samples of FTA and glucose on day 1 (n= 11, r 0.71, p < 0.02) and between FFA and β-hydroxybutyrate (n= 12, r 0.62, p < 0.05), suggesting low FFA mobilization and oxidation in SGA infants with low blood glucose. After IL infants with low blood glucose had a more pronounced defect of intravascular lipolysis. Four infants had initial hypoglycemia (HG), with blood glucose 0.4-1.3 mmol/l, and 8 were normoglycemic (NG). In the NG group initial levels of lactate and alanine were within normal limits, and no changes occurred after IL. An early peak of glycerol was seen. In the HG group initial lactate and alanine levels were higher than in the NG group, while glycerol did not differ. After injection of IL, glucose increased at 60 and 120 min in the HG group. A close correlation was found between mean levels of lactate and alanine and a negative correlation between lactate and glucose, while no correlation was found between glycerol and glucose levels. The infants with the lowest initial glucose and the highest lactate levels had the steepest rise in glucose and the fastest decrease in lactate per unit increase in β-hydroxybutyrate after IL. On day 2 the initial levels of lactate and alanine were lower than on day 1 and all infants were normoglycemic. A glucose peak corresponding to the glycerol peak was seen after IL, but lactate and alanine levels did not change. These data were consistent with reduced lipolytic capacity, low fatty acid oxidation and reduced gluconeogenesis in SGA infants on day 1, especially in those with HG. The glucose and β-hydroxybutyrate levels were rapidly increasing and lactate levels decreasing after IL, suggesting improving gluconeogenesis concomitantly with increasing fatty acid oxidation.     

Metabolic complications of HIV and AIDS

Nutritional problems in the patient with HIV/AIDS may include both wasting and the more recently described lipodystrophy syndromes, which are complex disorders of body composition and metabolism associated with antiretroviral therapy. In this paper we review the pathophysiology and treatment options for both wasting and lipodystrophy.     

Neurohydatidosis

Early and non‐invasive evaluation of hydatid infestation of brain and spine is of paramount importance, especially in endemic areas. We present a spectrum of imaging findings in neurohydatidosis with a brief review of literature.