Abdul Hafeez Siddiqui

Successful Treatment of Rhino-Orbital Mucormycosis with Posaconazole and Hyperbaric Oxygen Therapy

Mucormycosis is a rare, but invasive infection caused by ubiquitous molds. Amphotericin B and surgery have been known to help improve the outcome. Sporadic case reports support the use of posaconazole in adults. We report a toddler with acute lymphoblastic leukemia who acquired rhino-orbital mucormycosis caused by Rhizopus species at the end of induction chemotherapy. She was successfully treated with multiple surgical debridements, amphotericin B, posaconazole and hyperbaric oxygen therapy. In conclusion, mucormycosis is a serious infection that requires aggressive surgical and medical therapy. To the best of our knowledge the use of posaconazole combined with hyperbaric oxygen therapy has not been reported in a toddler with leukemia and invasive Rhizopus sp. infection. This approach was found to be safe and effective in our patient.

Juvenile Cobalamin Deficiency in a 17 Year Old Child with Autonomic Dysfunction and Skin Changes

We report a rare case of juvenile cobalamin deficiency who presented at the age of 17 years. He was underweight and had skin changes, normocytic anemia, and autonomic dysfunction, which led to adynamic ileus and acute postrenal failure. The expected macrocytosis was masked by an underlying alpha-thalassemia trait. The patient had an excellent response to parenteral cobalamin treatment.Because of the diversity of clinical symptoms, the diagnosis of mitochondrial DNA (mtDNA) deletion disorders can be difficult. Here, we describe an 8-month-old boy presenting clinically exclusively with refractory anemia. Mutation analysis in our patient revealed a large, novel deletion in his mtDNA encompassing ATPase 6, cytochrome oxidase subunit III, NADH dehydrogenase genes ND3 to ND6, and cytochrome b. Comparison with other cases from the literature showed that there is no genotype-phenotype correlation regarding hematologic features. It is not possible to predict whether our patient will develop additional features from Pearson syndrome or Kearns-Sayre syndrome, both syndromic mitochondrial disorders with hematological manifestations.

Prevalence of Pneumococcal Bacteremia in Children with Sickle Cell Disease

We performed a retrospective chart review of children with sickle cell disease hospitalized for fever at our local institution. We reviewed 456 hospitalizations in 133 patients between January 2006 and June 2012. The prevalence of true bacteremia was 4%. The mean C-reactive protein values and temperatures were nonsignificantly higher in patients with positive blood cultures. The mean time to detection was 22.5 hours in bacteremia compared to 32.6 hours in blood cultures that grew contaminants (p = .034). Only two (0.4%) cases of pneumococcal bacteremia were reported and both occurred before May 2010, which marks the introduction of 13-valent pneumococcal vaccine (PCV13). Both patients with pneumococcal bacteremia had discontinued penicillin prophylaxis after the age of 5 years. The first patient was immunized but contracted a nonvaccine serotype (23B). The second patient was partially vaccinated and acquired a vaccine-preventable serotype (23F). Both serotypes were sensitive to ceftriaxone and vancomycin; one was resistant to penicillin. This is the first study reporting the prevalence of pneumococcal bacteremia since the introduction of PCV13.

A previously unknown mutation in the pyruvate kinase gene (PKLR) identified from a neonate with severe jaundice.

We report a neonate with early and severe hemolytic jaundice and low erythrocyte pyruvate kinase enzymatic activity (<2 U/g hemoglobin, reference interval 9-22). We found her asymptomatic mother to be heterozygous for a novel PKLR mutation (c.1573delT) with an erythrocyte PK activity of 6.2 U/g hemoglobin. Her asymptomatic father was heterozygous for the common Northern European PKLR mutation (c.1529A) with an erythrocyte PK activity of 3.6 U/g. The neonate was a compound heterozygote with both mutations, but with no other mutations identified by sequencing a panel of 27 genes involved in severe neonatal jaundice.

Association of autoimmune hepatitis type 1 in a child with Evans syndrome

Autoimmune hepatitis (AIH) is a progressive liver disease that is often associated with extrahepatic autoimmune disorders. Evans syndrome (ES) is a rare autoimmune disorder, which is characterized by immune thrombocytopenia and autoimmune hemolytic anemia. Association of AIH with ES is rare, especially in children. We report a 3-year-old female with a past medical history of ES who presented with jaundice and significant transaminitis due to AIH type 1. She required multiple treatments with steroids as well as azathioprine, intravenous immunoglobulin and a course of rituximab.

Infantile Hepatic Hemangioendothelioma: An Uncommon Cause of Persistent Pulmonary Hypertension in a Newborn Infant

Multifocal and diffuse infantile hepatic hemangioendotheliomas commonly present with signs of high-output congestive heart failure. In addition, prolonged persistent pulmonary overcirculation eventually leads to the development of pulmonary hypertension at a later age. We report a 2-day old, full-term infant with multifocal, large infantile hepatic hemangioendothelioma, who presented with an early onset of pulmonary hypertension, managed successfully with supportive care and systemic therapy directed toward the involution of infantile hepatic hemangioendothelioma.

Changes in Cerebral Blood Flow in Children with Sickle Cell Disease After Splenectomy

The study assessed changes in cerebral blood flow and need for chronic blood transfusions in sickle cell disease children after splenectomy. A retrospective chart review of 40 children splenectomized between 1999 and 2014 was performed. The mean time-average maximum velocity before splenectomy was 129 cm/sec; which increased to 157 cm/sec and then decreased to 137 cm/sec, 2 and 5 years postsplenectomy, respectively. There was a persistent and statistically significant elevation in platelet count noted after splenectomy. The mean cerebral blood flow velocity seemed to increase transiently after splenectomy. Close monitoring and screening for stroke risk should be continued postsplenectomy.

Pancytopenia after packed red blood cell transfusion for severe iron deficiency anemia in a toddler.

chromatography of the Hb (Variant Beta Thalassemia Short Programme, Bio-Rad) revealed the following: HbE: 57.5% and HbF: 42%. Thus, a diagnosis of EbT was made. Simultaneously, it was revealed that her father and mother were carriers of the E-trait and the b-trait, respectively. The serum iron and ferritin were elevated, whereas the total iron binding capacity was normal. There was no history of hematological or liver diseases in the family. She was never transfused in the past. The usual metabolic screening tests (eg, serum amino acids, urine organic acids, urine metabolites) were normal. Her bone age was reported to be within normal limits. Radiographs showed no signs of formation of tooth buds except the upper lateral incisors. Chromosome analysis in cultured peripheral blood lymphocytes was also normal. Electroencephalogram and magnetic resonance imaging of the brain were normal, as were abdominal ultrasound (besides hepatosplenomegaly), pelvic ultrasound, and echocardiographic examinations. She was advised on regular follow-up at the hematology clinic. The parental screening for dental anomalies, using the panoramic views of the oral cavity was normal. EDs are congenital disorders characterized by alterations in 2 or more ectodermal structures, at least involving 1 in hair (atrichosis/hypotrichosis), teeth (adontia/hypodontia), nails, or sweat glands (anhidrosis/hypohidrosis). The X-linked recessive variant constitutes about 80% of cases, with rare instances of autosomal recessive and autosomal dominant transmission known. The female carriers have some phenotypic expressions, mostly similar to those seen in affected males. In the absence of family history, our case most likely represents the autosomal recessive variant of ED. Double heterozygous EbT occurs when the patient inherits an E and a b-thalassemia allele, 1 each from either parent. EbT is an autosomal recessive hemoglobinopathy that represents one of the most clinically significant hematological disorders, especially in South-East Asia. In areas of high prevalence of EbT, its coinheritance with another congenital disorder may not be rare. Recent papers increasingly report on the co-occurrence of thalassemias and a variety of genetic and nongenetic syndromes. We had earlier described a 3-year-old girl with bthalassemia major and Down syndrome and another 11-year-old girl with EbT and acute Wilson disease. Thalassemia minor and b-thalassemia have also been reported in association with Wilson disease. Some of the other reported associations with thalassemia include celiac disease, Dubowitz syndrome, and Turner syndrome. Growth retardation is a common manifestation of ED, and the concomitant presence of thalassemia might further aggravate it. Further, the degree of facial deformity and dental anomalies may be exaggerated by both conditions existing together. Thus, it is of utmost importance to recognize comorbid conditions coexisting with major forms of thalassemias to facilitate measures to ensure maximally optimum outcomes.