Staphylococcal scalded skin syndrome

Staphylococcal Scalded Skin Syndrome (SSSS) is a disease primarily of young children, characterized by exfoliative dermatitis caused by exfoliative toxin producing Staphylococcus aureus. We had three cases of SSSS with varied dermatological manifestations-diffuse/scarlitiniform erythema, generalized exfoliation, sand paper skin texture, flaccid bullae, erosions, seborrheic dermatitis like scaling and cracking in skin creases which can be confused with other skin conditions. Hence, a high index of suspicion, early diagnosis and prompt treatment is imperative.     

Staphylococcal scalded skin syndrome

Staphylococcal Scalded Skin Syndrome (SSSS) is a disease primarily of young children, characterized by exfoliative dermatitis caused by exfoliative toxin producing Staphylococcus aureus. We had three cases of SSSS with varied dermatological manifestations-diffuse/scarlitiniform erythema, generalized exfoliation, sand paper skin texture, flaccid bullae, erosions, seborrheic dermatitis like scaling and cracking in skin creases which can be confused with other skin conditions. Hence, a high index of suspicion, early diagnosis and prompt treatment is imperative.     

Spectrum of primary immune deficiency at a tertiary care hospital

Objective  To report various primary immune deficiencies diagnosed in children at a tertiary care hospital, their clinical manifestations and laboratory profile. Methods  Case records of children diagnosed to have primary immunodeficiency disorders over a period of 24 months at a tertiary care hospital in northern India were evaluated. Results  Twenty-seven children (M: F=3.5: 1) with mean age of 5.4 ± 4.6 yrs (2mo-16yr) were diagnosed to have primary immunodeficiency. Thirteen children had chronic granulomatous disease (CGD), 4 had severe combined immunodeficiency (SCID), 4 had hypogammaglobulinemia, 2 had Ataxia telangiectasia, and one each had DiGeorge syndrome, Wiskott Aldrich syndrome, hyper IgM syndrome and leukocyte adhesion defect. Common mode of presentation were recurrent/ persistent pneumonia in 19, recurrent/ persistent diarrhea in 10, deep seated abscesses in 8, allergy in 3, disseminated tuberculosis infection in 2, extensive fungal infections in 2 and 1 each of disseminated cytomegalovirus (CMV) infection, disseminated BCG disease, otitis media and meningitis. Family history of sibling deaths was elicited in 2 families. Infectious agents were isolated in 16 cases. Conclusion  From a single center 27 patients with primary immune deficiency could be identified by chart review, suggesting need for high index of suspicion for diagnosis of primary immune deficiency in India. Though the exact prevalence is not known there is need to make a registry to document the magnitude of problem of these disorders.     

Staphylococcal scalded skin syndrome in an extremely premature neonate: a case report with a brief review of literature

Abstract:   Staphylococcus aureus can cause a spectrum of exfoliative skin conditions including staphylococcal scalded skin syndrome (SSSS) which can present as a severe and life threatening illness in extremely premature neonates. We describe a case of an extremely premature neonate with SSSS and discuss relevant pathology and issues in clinical management.     

儿童原发性免疫缺陷合并马内菲青霉菌病1例并文献复习

目的提高儿童马内菲青霉菌病的临床诊断水平。方法回顾分析1例原发性免疫缺陷病合并马内菲青霉菌病患儿的临床资料并进行相关文献复习。结果反复发热、"肺炎"、肝脾进行性肿大、皮疹、免疫功能低下等为马内菲青霉菌病的基本特征,骨髓细胞形态学检查见马内菲青霉菌及血液真菌培养发现马内菲青霉菌生长是确诊依据。结论认识马内菲青霉菌病的临床特征,避免漏诊、误诊。     

Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency

Abstract:  OS has been described as a clinical phenotype in infants characterized by SCID, diffuse erythroderma, and other distinct features. The pathogenesis is secondary to autologous, auto-reactive T cells produced as rare escapees from the SCID blockade. Mutations in either the RAG1 or RAG2 gene that lead to partial recombinase activity are responsible for many of the patients with these clinical features. We report on two patients, one with an atypical phenotype of OS (absence of rash but presence of other typical features) who harbored a previously undescribed mutation in RAG1 , and a second who had many of the classic features of OS but was found to have a mutation in the common gamma chain (γ_c) cytokine receptor gene. These cases highlight the clinical and genetic heterogeneity of OS.     

Kartagener syndrome: An uncommon cause of neonatal respiratory distress?

We report a newborn with respiratory distress and situs inversus totalis. The diagnosis of primary ciliary dyskinesia was confirmed by both ultrastructural and functional investigations. The immotile cilia syndrome was suspected because of respiratory distress, situs inversus, abnormal nasal discharge and hyperinflated chest X-ray. We suggest that ultrastructural and functional investigations of the respiratory mucosa should be done in any newborn with respiratory distress without explanation for the respiratory problems. Establishment of the correct diagnosis at an early stage may allow to improve the prognosis provided prophylactic physiotherapy, vaccinations, and aggressive antibiotic treatment of intercurrent respiratory infections are instituted.Conclusion Despite its rarity, primany ciliary dyskinesia should be considered in unexplained cases of neonatal distress     

Griscelli syndrome: a case report

A 10-year-old boy presented with partial albinism and typical clinical features of a macrophage activation syndrome (hepatosplenomegaly, fever, and pancytopenia), suggesting the diagnosis of Griscelli syndrome. The diagnosis was confirmed by light microscopic evaluation of hair that showed characteristic large aggregates of pigment granules irregularly distributed along the hair shaft. Immunosuppressive therapy controlled his macrophage activation syndrome successfully. Since early diagnosis is life saving and simple methods confirm the diagnosis, finding of partial albinism in children should alert clinicians to consider Griscelli syndrome.     

Selective IgA deficiency with unusual features: Development of common variable immunodeficiency,Sjögren's syndrome,autoimmune hemolytic anemia and immune thrombocytopenic purpura

We report on a girl with selective IgA deficiency and persistently low complement component 4 (C4) levels compatible with heterozygous C4 deficiency. Deterioration of her serum immunoglobulin levels and transition to common variable immunodeficiency were observed within a 5 year follow-up. She also developed Sjögren's syndrome, autoimmune hemolytic anemia and immune thrombocytopenic purpura While these abnormalities have been described before in various combinations, to our knowledge, they have not been reported in a single individual.     

Congenital varicella syndrome: studies of the virus-specific humoral and cell-mediated immune responses

We describe a three-year-old boy with congenital varicella syndrome. Persistent IgG antibodies to varicella-zoster virus (VZV) were detected in the child's sera for a period of more than three years. Immunological studies performed at three months and at three years of age showed a VZV-specific cellular immune response. The results suggest that intrauterine VZV infections in early pregnancy can induce adequate humoral and cellular immune reactions in the infected foetus.     

Medium-chain acyl CoA dehydrogenase deficiency: Electron microscopic differentiation from Reye syndrome

Inborn errors involving the oxidative metabolism of fatty acids may present clinically with a Reye syndrome-like picture. This case report of a patient with medium-chain acyl CoA dehydrogenase (MCAD) deficiency illustrates that electron microscopy may help to differentiate this disorder from Reye syndrome even if a liver biopsy is performed in a patient who recovered from an acute metabolic decompensation. Together with this case, a review of the few reports in the literature of pathological findings in MCAD deficiency is given. Changes uncharacteristic for Reye syndrome are a largedroplet steatosis and the presence of distinctive mitochondrial abnormalities on electron microscopy. The detection of an electron dense mitochondrial matrix and a widened space of inner mitochondrial membranes rules out Reye syndrome and is suggestive of a disorder of mitochondrial fatty acid oxidation.     

Down syndrome and arterial ischemic stroke in childhood: A potential immunologic link with selective IgG4 subclass deficiency

We report four children with Down Syndrome (DS) without evidence of congenital heart disease who sustained cerebral infarction in the context of an infectious disease. In one child, stroke occurred in the context of acute infection with Mycoplasma pneumonia. In another child, stroke occurred in the context of Streptococcus oralis (viridans subgroup) infection. In two other children, stroke occurred in the context of a bibasilar pneumonia for which an etiologic agent was not found. All patients had evidence of selective IgG4 subclass deficiency. We followed 8 other children with down syndrome with infectious diseases, but without stroke and a control group of healthy children, and measured the value of IgG4 for each group. We found a statistical significant difference of levels of IgG4 subclass deficiency in the group of stroke, in comparison with the other two groups (P values <0.001). We, therefore, suggest an association between IgG4 subclass deficiency and stroke in DS patients. IgG4 subclass deficiency could conceivably play a role in the high frequency of para-infectious related stroke in this population.     

Pneumatosis intestinalis in an infant undergoing bone marrow transplantation for Wiskott-Aldrich syndrome

A 7-month-old patient with Wiskott-Aldrich syndrome (WAS) developed pneumatosis intestinalis (PI) in the immediate post-transplant period after receiving paternal human leucocyte antigen (HLA) phenotypically matched bone marrow (BM). PI has been described in patients with congenital or acquired immunodeficiency states and after bone marrow transplantation (BMT). To our knowledge, the condition has not been described in WAS. The underlying bowel mucosa damage as a result of the history of massive rectal bleeding, the effects of the conditioning regimen, immunosuppression, neutropenia, and infection, may all have contributed to the development of PI. Although the condition resolved by conservative management alone, the patient developed Klebsiella pneumonia sepsis, interstitial pneumonitis, failed to engraft, and died on day +66 following a second infusion of stem cells mobilized from his father's peripheral blood.     

Early myoclonic epilepsy,hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2)

BackgroundPrimary coenzyme Q10 (CoQ10) deficiencies are heterogeneous autosomal recessive disorders. CoQ2 mutations have been identified only rarely in patients. All affected individuals presented with nephrotic syndrome in the first year of life.MethodsAn infant is studied with myoclonic seizures and hypertrophic cardiomyopathy in the first months of life and developed a nephrotic syndrome in a later stage.ResultsAt three weeks of age, the index patient developed myoclonic seizures. In addition, he had hypertrophic cardiomyopathy and increased CSF lactate. A skeletal muscle biopsy performed at two months of age disclosed normal activities of the oxidative phosphorylation complexes. The child was supplemented with CoQ10 (5 mg/kg/day). At the age of four months, brain MR images showed bilateral increased signal intensities in putamen and cerebral cortex. After that age, he developed massive proteinuria. The daily dose of CoQ10 was increased to 30 mg/kg. Renal biopsy showed focal segmental glomerulosclerosis. Biochemical analyses of a kidney biopsy sample revealed a severely decreased activity of succinate cytochrome c reductase [complex II + III] suggesting ubiquinone depletion. Incorporation of labelled precursors necessary for CoQ10 synthesis was significantly decreased in cultured skin fibroblasts. His condition deteriorated and he died at the age of five months. A novel homozygous mutation c.326G > A (p.Ser109Asn) was found in COQ2.ConclusionsIn contrast to previously reported patients with CoQ2 the proband presented with early myoclonic epilepsy, hypertrophic cardiomyopathy and only in a later stage developed a nephrotic syndrome. The phenotype of this patient enlarges the phenotypical spectrum of the multisystem infantile variant.     

Iron deficiency in proteinuric children with nephrotic syndrome: A cross-sectional pilot study

Massive proteinuria in nephrotic syndrome causes depletion of various proteins. Iron deficiency can occur due to urinary loss of iron, transferrin, and soluble transferrin receptors. We conducted this cross-sectional study of 52 children with proteinuric nephrotic syndrome, aged 1–12 years (mean 7.1 ± 2.7 years). Hemoglobin (Hb), RBC indices (MCV, MCH, MCHC), percentage of hypochromic RBCs (Hypo-He), reticulocyte hemoglobin content (Ret-He), and serum ferritin were examined. Seven (13%) patients had iron deficiency anemia and another 10 (19%) exhibited iron deficiency. A higher proportion of children with steroid-resistant disease had anemia than did steroid-sensitive children (P = 0.076). Thus, children with nephrotic syndrome may have iron deficiency (32.7%), which needs to be screened.     

Staphylococcal scalded skin syndrome in an extremely low‐birth‐weight neonate: Molecular characterization and rapid detection by multiplex and real‐time PCR of methicillin‐resistant Staphylococcus aureus

Background: Staphylococcal scalded skin syndrome (SSSS), caused by methicillin‐resistant Staphylococcus aureus (MRSA) producing exfoliative toxin (ET), is a life‐threatening infection for neonates in neonatal intensive care units (NICUs). SSSS in extremely low‐birth‐weight (ELBW) neonates is rare. A new class of MRSA (community‐acquired MRSA, CA‐MRSA) has been emerging in the community. The aim of this study was to characterize MRSA from an ELBW neonate with SSSS, and to develop rapid detection methods for SSSS‐associated and emerging pediatric MRSA. Methods: An ELBW infant in the NICU developed SSSS on day 16 after birth. Isolated MRSA was genetically characterized and compared with CA‐MRSA from bullous impetigo (biCA‐MRSA), which is positive for the ET and collagen‐adhesin (CNA) genes in many cases, and the Panton‐Valentine leucocidin (PVL) gene rarely. Specific primers and probes for five virulence genes (for ETA, ETB, ETD, PVL, CNA) were designed for multiplex polymerase chain reaction (PCR) and real‐time PCR. Results: MRSA strain H5 from SSSS exhibited the genotype (ST91, spa416[t375], agr3, SCCmecIVa, CoaI), and possessed the ETB and CNA genes, similar to ST91 biCA‐MRSA (albeit with a divergence). Multiplex PCR detected the ETB and CNA genes of strain H5, and real‐time PCR detected strain H5 at as low as 10² CFU/mL. The assays were 100% specific and 100% sensitive, for the five virulence genes. Conclusion: ETB‐positive ST91 MRSA, which was very similar to ST91 biCA‐MRSA, was isolated from an ELBW infant with SSSS. The multiplex and real‐time PCR assays specifically or quantitatively detected SSSS‐associated and emerging pediatric MRSA.