Hepatitis A associated with other focal infections.

BACKGROUND: Concomitant bacterial and viral infection is a well-known phenomenon, however only very rarely has a bacterial infection been reported during hepatitis A virus infection. OBJECTIVE: To evaluate retrospectively the clinical records of children hospitalized with HAV infection for a concomitant infection proved or presumed to be bacterial. METHOD: A retrospective study was conducted on all the children hospitalized with hepatitis A infection from 1988-96 in our center. The records were evaluated for a concomitant infection. RESULTS: Of 40 children hospitalized with HAV infection, 13 were found to have a concomitant infection: these included 6 with pneumonia, 4 with pyelonephritis and 1 case each of purulent otitis media, osteomyelitis and staphylococcal bacteremia. CONCLUSION: In areas where hepatitis A is endemic, a simultaneous infection with hepatitis A and other common bacterial infection during childhood may co-exist. A permissive role for HAV infection is suggested.

Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases.

Kabuki make-up (Niikawa-Kuroki) syndrome has been described mainly in Japanese patients. In this paper we report sixteen new cases from Europe and North America, suggesting that Kabuki make-up syndrome may be more common outside of Japan than supposed. Their features are compared with those of the Japanese patients and most of our findings are similar to those previously reported. The facial phenotype is specific and easily recognizable, regardless of ethnic origin. Postnatal growth retardation and mild mental retardation are confirmed to be cardinal manifestations of the syndrome. Skeletal anomalies were present in all cases but most of the radiological changes were non-specific. The specificity of metacarpophalangeal pattern profile is not confirmed. Conversely, dermatoglyphic analysis is helpful in the diagnosis of this condition. Two differences have emerged between the Japanese patients and those in this study. Firstly, two-thirds of the patients in this series had significant neurological dysfunction other than mental retardation. Secondly, joint hypermobility appears more common in non-Japanese patients. Confirmation of these findings requires further studies.

The Niikawa-Kuroki (Kabuki make-up) syndrome in a Moslem Arab child.

The Niikawa-Kuroki "Kabuki Make-Up" syndrome is a rare sporadic malformation syndrome, characterised by severe psychomotor and growth retardation, peculiar facies, including long palpabral fissures and large malformed ears and skeletal abnormalities. We report a 2-year-old Moslem Arab boy with 28 of the 32 originally described features of this syndrome and in addition with hyperelastic joints, hypospadias and scaphocephaly which were not previously described in association with the Kabuki make-up syndrome. This is the fifth reported case of this syndrome in a non-Japanese patient, and the second reported case in a patient of Arab descent.

Cardio-facio cutaneous syndrome: neurological manifestations.

Cardio-facio-cutaneous (CFC) syndrome is a not uncommon syndrome with a characteristic face, mental retardation, abnormal skin and hair and congenital heart disease. We report the 16th case of this syndrome and give details of the spectrum of neurological manifestations in the cases so far reported.

Chronic pigmented purpura: a case report of Schamberg's disease.

The syndrome of chronic pigmented purpura (CPP) consists of pigmented macular lesions, predominantly involving the lower extremities. An 11-year-old girl was diagnosed initially as suffering from vasculitic purpura, but the clinical course and the skin histology proved to be consistent with CPP. This syndrome should be included in the differential diagnosis of childhood purpura.

Impaired kinetic properties of hypoxanthine-guanine phosphoribosyl transferase as a cause of uric acid nephropathy in early infancy.

A 6-month-old infant presented with failure to thrive, hyperuricaemia and renal insufficiency. The hyperuricaemia was due to uric acid over-production. The level of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) activity was found to be normal. However, a two-fold increase in the Km of the enzyme to hypoxanthine as well as in the Vmax values was observed. It seems therefore, that in cases of uric acid over-production, screening tests of HGPRT activity may be insufficient and additional kinetic properties of the enzyme should be tested.

Familial absence of the trapezius muscle with associated shoulder girdle abnormalities.

Two brothers with congenital absence of the trapezius, pectoralis, supraspinatus and serratus anterior are reported and the relevant literature reviewed.

Rise of prostanoids in rat small intestinal mucosa following intestinal protein hypersensitivity.

The purpose of the present study was to establish whether there is an elevated prostaglandin concentration in the intestinal mucosa in rats suffering from an immediate type hypersensitivity reaction. Rats of the Hooded-Lister strain were sensitized and challenged with ovalbumin. Control rats were given adjuvant only. Prostanoid content of scraped mucosa was determined by radioimmunoassay. It was found that the prostaglandin E2 content in the sensitized intestine was significantly elevated as compared to the controls. There was no significant rise of 6-keto prostaglandin F alpha or thromboxane E2 in the sensitized rats. These results show that prostaglandin B2 participates in intestinal immediate type responses and may explain some of the clinical manifestations of food protein allergy.

Ultrastructural abnormalities of the liver in total lipodystrophy.

We present the results of light and electron microscopy studies of the liver in an 8-year-old girl with congenital total lipodystrophy. Liver histology revealed cirrhosis, and ultrastructural study showed mitochondrial abnormalities and an increase in the number of peroxisomes. A potential relationship between the high fatty acid concentration in the serum and the peroxisomal proliferation is considered.

Sweet syndrome in early childhood.

A 21-month-old child with acute febrile dermatosis, leukocytosis and skin biopsy showing intradermal neutrophil infiltrate was diagnosed as suffering from Sweet syndrome. This syndrome is rare in children, described heretofore in only seven paediatric patients. The clinical and histological features, differential diagnosis, as well as the potential association with more widespread systemic diseases are discussed.

Bloody diarrhea--a possible complication of sulfasalazine transferred through human breast milk.

Sulfasalazine very rarely causes bloody diarrhea. A 3-month-old infant had bloody diarrhea that could be related to sulfasalazine that had been taken by his mother and was transferred through his mother's breast milk. The patient was exclusively breast fed, and no other known etiological factors could be detected for the infant's bloody diarrhea.

Pancytopenia caused by iron-dextran.

Pancytopenia after intramuscular iron-dextran treatment occurred in an infant with Down's syndrome. Haematological abnormalities recurred on subsequent challenge. Positive migration inhibiting factor and mast cell degranulation tests support an allergic pathogenesis for the pancytopenia. These side effects have not been reported previously.

Familial variant of maxillonasal dysplasia?

A rare syndrome comprising midfacial hypoplasia, lack of anterior nasal spine, and malocclusion is described. To the best of our knowledge, only sporadic cases with a similar cluster of defects have been reported, usually with the appellation of Binder syndrome. We describe an affected mother and daughter, thus suggesting a dominant mode of inheritance.