[Pseudo-periodic disease with hyperimmunoglobulinemia D: a never-ending story with probable prenatal onset]. / Pseudomaladie périodique avec hyperimmunoglobulinémie D: une histoire sans fin de début anténatal probable.

UNLABELLED: Diagnosis of inflammatory non-infectious diseases with a neonatal onset is often retrospective. It may lead to aggressive and iatrogenic procedures. PATIENT: A 6-year-old boy was suffering, since birth, from recurrent febrile attacks including rashes, gastrointestinal manifestations and inflammatory joint involvement. This syndrome, partially improved with steroids, could have been of antenatal onset. Since the age of 4 years, the patient is considered as having hyper-IgD syndrome (HIDS). DISCUSSION: HIDS must be distinguished from familial Mediterranean fever. Patients suffer from recurrent fever concomitant to inflammatory joint involvement, abdominal distress, skin lesions, swollen lymph nodes and hepatosplenomegaly (especially seen in children). All patients have high serum IgD (> 100 UI/mL) and IgA levels. Nevertheless, a high IgD level is not specific. Our case could also be part of the CINCA (chronic, infantile, neurological, cutaneous and articular) syndrome, which includes similar early manifestations associated with a constant neurological and frequent ophthalmological involvement and epiphyseal changes; to date, these last three manifestations are not present in our patient. CONCLUSION: HIDS and CINCA syndrome are not known to be modified by any effective therapeutic agent. When presenting at birth, these inflammatory diseases must be considered as entities with a rarely described potential severity.

Neonatal diabetes mellitus associated with severe diarrhea, hyperimmunoglobulin E syndrome, and absence of islets of Langerhans.

Neonatal insulin-dependent diabetes mellitus (DM) is very rare and descriptions of the pancreatic pathology in affected infants vary considerably. Death after 10 months of a male child who suffered the onset of insulin-dependent DM as a neonate, together with severe diarrhea and features of the hyperimmunoglobulin E syndrome, was found to be associated with absence of islets of Langerhans. There was no evidence of any pancreatic exocrine abnormality or other endocrinopathy. Two male relatives with insulin-dependent DM have also died as infants, and after review of the literature it is suggested that this disease process may be part of the spectrum of an X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy. Evidence is presented to support the suggestion that this syndrome is an autoimmune disorder.

Hyperimmunoglobulinemia E syndrome of neonatal onset.

A case of hyperimmunoglobulinemia IgE with recurrent infections of neonatal onset and unfavourable evolution is described. The first clinical finding was the appearance of maculopapular rash in the skin when the child was fifteen days old. From this period onwards, respiratory and cutaneous infections were continuous, leading to a progressive deterioration of the general condition, and malnutrition, which ended fatally at the age of three years. IgE levels were measured on several occasions, this being 17 IU/ml at the onset of the symptoms; afterwards, the mean value was 17.680 IU/ml (Range: 14.9-32.710 IU/ml).

Phagocyte defects.

Although inherited forms of phagocyte defects affect a small proportion of the general population, their clinical course can be altered dramatically by a physician's awareness of these diseases and modifications of the approach to and treatment of affected patients. The most common syndromes are chronic granulomatous disease of childhood (CGD), the Chediak-Higashi syndrome (CHS), the hyperimmunoglobulin-E-recurrent infection (Job's) syndrome (HIE), and myeloperoxidase (MPO) deficiency. CGD patients have defects in the oxidative metabolism involved in killing catalase-positive organisms. CHS patients have giant granules defective in fusing with phagosomes and subsequent killing of ingested organisms. HIE patients have abnormal chemotaxis and elevated IgE levels and are susceptible to skin infections with Staphylococcus aureus and recurrent sinopulmonary infections. MPO-deficient patients often go undetected since they rarely have recurrent infections unless they have a concomitant disease such as diabetes mellitus. Patients with a recently described syndrome, C3bi receptor deficiency, have recurrent bacterial infections and persistent leukocytosis, and their neutrophils have abnormal adherence and phagocytosis. The absence of specific granules is a more rare entity but these patients also have recurrent infections thought to be secondary to a chemotactic defect and a minor abnormality of microbial killing exhibited by their neutrophils. This review will focus on the clinical presentation and management of these patients.