Acid maltase deficiency in childhood. Early diagnosis and clinical follow-up of late-onset glycogen storage disease type II.

A case is described of late-onset glycogenosis type II presenting with an isolated rise in serum transaminase levels. Histological, histochemical, ultrastructural and biochemical examinations performed on muscle biopsy showed the typical laboratory features of late-onset glycogenosis type II, which was diagnosed more than four years before the first appearance of disease-related signs and symptoms. A heterozygote status for the same defect was also demonstrated by enzyme assays in both parents, thus confirming the autosomal recessive mode of inheritance of the disorder. Even though an elevation in transaminases and other serum enzymes of possible muscle origin has been previously described as a diagnostic clue in some unsuspected muscular diseases in childhood, as far as we know no other patient with a sporadic form of glycogenosis type II has been identified when still completely asymptomatic. The possibility of silent primary metabolic diseases and myopathies should be carefully considered when evaluating children with persistently elevated serum transaminases, even in the absence of suggestive anamnestic, familial and physical findings, in order to obtain an early diagnosis and to provide an appropriate genetic counselling.

[Long-term asymptomatic incubation in vertical HIV infection. Description of a case and review of the literature]. / Incubazione asintomatica di lunga durata in corso di infezione verticale da HIV. Descrizione di un caso e revisione della letteratura.

The natural history of HIV infection in perinatally-infected children is still poorly defined; more information about disease progression is needed for the design of clinical and therapeutic trials. According to the most recent reports, vertically-acquired infection seems to follow two different modes of progression, with the majority of patients expressing early signs of severe disease, whereas a subgroup of mildly affected infants has a longer survival, comparable to that previously reported for adults: the long term prognosis of this last patient group remains unknown. Current estimates of incubation periods in children are based on limited data, largely drawn from ill patients: hence subjects with a short incubation time are more likely to be observed. A case is described of a child born in 1982 to an asymptomatic intravenous drug abuser mother. HIV infection was detected in both mother and son only in 1984, but other risk factors for HIV infection of the infant (i.e. blood transfusions, sexual abuse) were excluded. The child had an uneventful neonatal period and childhood, with normal growth and development; up to now, at the age of 9 years 6 months, no clinical signs and symptoms possibly related to HIV infection became evident. Laboratory examinations showed only slight immunologic abnormalities (class P-1 B, CDC), such as increased serum immunoglobulin levels, reduction of CD4+/CD8+ ratio with no relevant decrease of absolute CD4+ lymphocyte count (1100/mm3); HIV-p24Ag and virus isolation were always negative.(ABSTRACT TRUNCATED AT 250 WORDS)

[Rokitansky syndrome. Description of a case in childhood]. / La sindrome di Rokitansky. Descrizione di un caso in età pediatrica.

A case of Rokitansky syndrome is reported in association with total agenesis of the uterus and vagina. All pathogenic, clinic, diagnostic and therapeutic viewpoints are mentioned. The Authors emphasize the importance of an early diagnosis and careful psychological training of patients and their families since a successful reconstructive treatment depends upon an absolute and lasting cooperation.