Congenital Microvillus Inclusion Disease In The Differential Diagnosis Of Intractable Metabolic Acidosis

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Atypical Skin Graft-vs.-Host Disease Following Bone Marrow Transplantation in an Infant

Herein, we describe an unusual presentation of acute graft versus host disease (GVHD) mimicking contact dermatitis in an infant who underwent 5/6 HLA-matched bone marrow transplantation (BMT) from his mother for malignant infantile osteopetrosis. The initial rash on day +32 simulated diaper rash, which progressed to a belt-shaped rash and then developed hyperkeratotic nodules on the hands. The acute GVHD was atypical and the course was progressive and fatal, with liver and gut involvement. This presentation of atypical initial skin involvement of acute GVHD may be useful for practicing clinicians in the BMT field who need to be aware of the early unusual signs of acute GVHD so that they can initiate prompt treatment

Purpura fulminans as the presenting manifestation in a patient with juvenile SLE

We present a 12-year-old girl with systemic lupus erythematosus and associated antiphospholipid syndrome who developed an unusual manifestation of purpura fulminans in an accelerated fashion. The patient improved after prompt treatment with anticoagulants, aggressive immunosuppressive drugs and plasmapheresis. This is the first pediatric case of purpura fulminans due to secondary antiphospholipid syndrome of systemic lupus erythematosus. We suggest that SLE patients with lupus anticoagulant should be followed closely for similar complications

Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails

The peroxisomal biogenesis disorders (PBDs) comprise the Zellweger spectrum disorders (i.e., Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease) and rhizomelic chondrodysplasia punctata. Peroxisomal biogenesis disorders can be caused by mutations in any of 13 currently known PEX genes, which encode peroxins involved in peroxisomal protein import and/or assembly of the organelle. We report here on a Turkish patient who presented with unusual clinical findings, that included non-immune hydrops, dermal erythropoiesis and hypoplastic toenails, as well as common dysmorphic features of Zellweger syndrome. The patient has also pulmonary hypoplasia, which has been reported in only a few patients with Zellweger syndrome. A peroxisomal biogenesis disorder was confirmed by enzyme analysis and abnormal very long-chain fatty acid (VLCFA) profiles in plasma and fibroblast and immunofluorescence microscopy studies. Subsequent molecular genetic analysis revealed a homozygous c.856C>T mutation (R268X) in the PEX3 gene, which made this patient the third to have a defect in this gene. In contrast to those of the two previously reported patients, the cells of this patient still contained peroxisomal membrane structures (ghosts), seen by immunofluorescence microscopy analysis. The case presented here and the two previously reported cases point out that a PEX3 gene defect may present with fairly heterogeneous clinical findings. This case also raises a possibility that hydrops fetalis may be associated with a PEX3 gene defect and that peroxisomal disorders can be considered in the etiology of hydrops fetalis as well as other cell organelle disorders when one is considering yet undiscovered complementation groups in peroxisomal disorder

Trichosporon Asahii Sepsis In A Patient With Pediatric Malignancy

Trichosporon asahii is a rare opportunistic infection, especially in children, causing a life threatening fungal infection underlying hematologic malignancies. Predisposing factors for infection with this pathogen are immunodeficiency including underlying malignancy, organ transplantation, extensive burns, human immunodeficiency virus infection, corticosteroid therapy, prosthetic valve surgery, and peritoneal dialysis. In the literature, a breakthrough under caspofungin, micafungin therapy is reported. In this article we report on a 16-year-old patient with Ewing sarcoma who had T. asahii sepsis. The patient died although he had been receiving caspofungin for less than 3 months and amphotericin B therapy for 3 days. A postmortem study of conchal tissues revealed T. asahii and mucormycosis histopathologically, and blood culture grew T. asahii. Copyright (C) 2013, Taiwan Society of Microbiology. Published by Elsevier Taiwan LLC. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).WoSScopu

Treatment of severe Henoch-Schonlein nephritis: justifying more immunosuppression

The prognosis of Henoch-Schonlein purpura (HSP) nephritis is more severe than originally thought, with a significant portion progressing to deterioration of renal function in adulthood. Proteinuria adversely affects the outcome

Recurrent Hemoptysis And A Mass In The Thorax In An Infant: The Split Notochord Syndrome

Split notochord syndrome is a rare group of developmental abnormalities caused by abnormal splitting or deviation of the notochord clinically resulting in the duplicated bowel associated with vertebral anomalies. We report on a case of 11-month-old female infant with mediastinal hyperechogenic cyst and intestinal duplication cyst associated with T5-T6 hemivertebrae, scoliosis, and nonfusion of posterior part of T6 vertebrae, presenting with severe hemoptysis and hematemesis. The cysts were surgically removed, and histopathologic analysis revealed that the mediastinal cyst was lined by gastric mucosa and intestinal one was lined with gastric mucosa including ectopic pancreatic tissue. After removal of the lesion the patient made an uneventful recovery and shows no signs of long-term pulmonary sequelae.PubMe

Bk Virus Associated Nephropathy And Severe Pneumonia In A Kidney Transplanted Adolescent With Schimke Immune-Osseous-Dysplasia

Patients with juvenile onset Schimke immune-osseous-dysplasia (SIOD) have less severe symptoms and can survive in the second and third decade of life. We present an 18 year-old adolescent with juvenile onset SIOD who was diagnosed after renal transplantation and developed BK virus associated nephropathy (BKVAN) and severe pneumonia during follow-up. The patient developed nephrotic syndrome, unresponsive to immunosuppressives, at the age of 8 years. He had a history of meningitis, short stature, microcephaly, prominent ears, and bilateral cryptorchidism. A renal transplantation was performed at the age of 15 years. During follow-up, he suffered from leucopenia, urinary tract infections, herpes labialis, and candida esophagitis. Sanger sequencing of SMARCAL1 revealed a missense mutation on exon 11 (R586W). A renal biopsy performed after a sharp increase in serum creatinine (without significant viremia) revealed BKVAN which responded to sirolimus monotherapy and cidofovir. Three months later, he suffered from productive cough and dyspnea with diffuse ground glass pulmonary infiltrates. His clinical situation deteriorated and non-invasive mechanical ventilation was started. Cidofovir (2 mg/kg) was re-started weekly for a possible BKV pneumonia with intravenous immunoglobulin. After 5 doses of cidofovir and intense antibiotic regime, his dyspnea resolved with stable graft functions. In our case; BKVAN, which developed without significant viremia, and possibly associated pneumonia were treated successfully with cidofovir and sirolimus monotherapy.WoSScopu