Propionic acidemia

Baumgartner MR, et al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis. 2014 Sep 2;9:130.

Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism characterized by accumulation of propionic acid and/or methylmalonic acid due to deficiency of methylmalonyl-CoA mutase (MUT) or propionyl-CoA carboxylase (PCC). MMA has an estimated incidence of ~ 1: 50,000 and PA of ~ 1:100’000 -150,000. Patients present either shortly after birth with acute deterioration, metabolic acidosis and hyperammonemia or later at any age with a more heterogeneous clinical picture, leading to early death or to severe neurological handicap in many survivors. Mental outcome tends to be worse in PA and late complications include chronic kidney disease almost exclusively in MMA and cardiomyopathy mainly in PA. Except for vitamin B12 responsive forms of MMA the outcome remains poor despite the existence of apparently effective therapy with a low protein diet and carnitine. This may be related to under recognition and delayed diagnosis due to nonspecific clinical presentation and insufficient awareness of health care professionals because of disease rarity.

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Grünert SC, et al. Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. Orphanet J Rare Dis. 2013 Jan 10;8:6.

Propionic acidemia (PA) is a rare autosomal recessively inherited inborn error of propionate metabolism. The biochemical defect involves the conversion of propionyl-coenzyme A (propionyl-CoA) to methylmalonyl-coenzyme A (methylmalonyl-CoA) by the mitochondrial enzyme propionyl-CoA carboxylase (PCC, EC 6.4.1.3). Thus, the metabolism of branched-chain amino acids, odd-numbered fatty acids, cholesterol side chains, thymine and uracil is impaired.

Most patients with this disorder present in the neonatal period with severe metabolic acidosis and hyperammonemia. However, late presentations with predominantly neurological symptoms as well as asymptomatic individuals have also been described [13]. With progression of the disease, patients are prone to complications affecting the neurologic, cardiologic, hematologic, immunologic and gastrointestinal system. As underlined in the proceedings of a recently held consensus conference on PA, the understanding of the disease course in PA is rather limited, with most information deriving from case reports and small retrospective case series [4]. Although few authors have reported data on larger groups of patients [2,59] information on the long-term outcome of affected individuals is still limited.

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Peripheral primitive neuroectodermal tumors (pPNETs)

Ba L, et al. Radiologic and clinicopathologic findings of peripheral primitive neuroectodermal tumors. Acta Radiol. 2015 Jul;56(7):820-8.

Primitive neuroectodermal tumors (PNETs) constitute a rare type of malignant neuroectodermal tumors that have chromosomal translocations identical to Ewing’s sarcoma (ES), and the characteristics of this disease remain unclear. pPNETs can involve any part of the body, and a large, ill-defined, aggressive soft tissue mass and heterogeneous enhancement with or without osteolytic bone destruction on CT or MR images could suggest the diagnosis.

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Tan Y, et al. Peripheral primitive neuroectodermal tumor: dynamic CT, MRI and clinicopathological characteristics–analysis of 36 cases and review of the literature. Oncotarget. 2014 Dec 30;5(24):12968-77.

“The further diagnosis of pPNET should be suggested in young men when the following criteria was matched: images show a single large ill-defined solid mass with small area of necrosis; scarcely had classification or hemorrhage; locally invasive to adjacent structures, especially for those show iso-intense on T1WI and T2WI, which have significant enhancement.”

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Cutaneous vasculitis

Ting TV. Diagnosis and management of cutaneous vasculitis in children. Pediatr Clin North Am. 2014 Apr;61(2):321-46.

Cutaneous vasculitis in children is rare. Causes of cutaneous vasculitis are varied and are typically differentiated by the affected vessel size. A skin biopsy remains the gold standard for diagnosis but other causes for vasculitis, including systemic conditions, should be considered. This article discusses the childhood conditions commonly presenting with cutaneous vasculitis (leukocytoclastic vasculitis, cutaneous polyarteritis nodosa), biopsy recommendations and findings, and management and potential differential diagnoses, and includes a brief summary of other diseases that may include cutaneous symptoms as a constellation of other systemic findings.

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Common variable immunodeficiency (CVID)

Gathmann B, et al. Clinical picture and treatment of 2212 patients with common variable immunodeficiency. J Allergy Clin Immunol. 2014 Jul;134(1):116-26.

Early disease onset (<10 years) was very frequent in our cohort (33.7%), especially in male subjects (39.8%). Male subjects with early-onset CVID were more prone to pneumonia and less prone to other complications suggesting a distinct disease entity. The diagnostic delay of CVID ranges between 4 and 5 years in many countries and is particularly high in subjects with early-onset CVID. Enteropathy, autoimmunity, granulomas, and splenomegaly formed a set of interrelated features, whereas bronchiectasis was not associated with any other clinical feature. Patient survival in this cohort was associated with age at onset and age at diagnosis only. There were different treatment strategies in Europe, with considerable differences in immunoglobulin dosing, ranging from 130 up to 750 mg/kg/mo. Patients with very low trough levels of less than 4 g/L had poor clinical outcomes, whereas higher trough levels were associated with a reduced frequency of serious bacterial infections.

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Pheochromocytoma

Edmonds S, Fein DM, Gurtman A. Pheochromocytoma. Pediatr Rev. 2011 Jul; 32(7): 308-10.

“Pheochromocytoma, a rare disease occurring more often in adults than in children, accounts for only about 1% of pediatric hypertension and often is associated with a variety of genetic syndromes. The National Registry of Childhood Cancers reports an incidence of 0.11 benign and 0.02 malignant pheochromocytomas per 1 million children. Eighty-five percent of pheochromocytomas are located in the adrenal glands; the rest develop in the extra-adrenal parasympathetic and sympathetic paraganglia. Most tumors are less than 5 cm in size, and 25% to 33% are bilateral. Approximately 10% of intra-adrenal and 40% of extra-adrenal pheochromocytomas are malignant. In childhood, these tumors are more prevalent in boys than girls, but during adolescence this trend reverses, possibly because of hormonal influences.”

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Hypocalcemic seizures secondary to Vitamin D deficiency

Korkmaz HA, et al. Neonatal seizure as a manifestation of unrecognized maternal hyperparathyroidism. J Clin Res Pediatr Endocrinol. 2013 Sep 10;5(3):206-8.

Maternal hypercalcemia suppresses parathyroid activity in the fetus resulting in impaired parathyroid responsiveness to hypocalcemia after birth. Resultant hypocalcemia may be severe and prolonged and rarely may lead to convulsions. Here, we present a newborn infant admitted to the pediatric emergency department at age two weeks with recurrent tonic convulsions due to asymptomatic maternal hyperparathyroidism and vitamin D deficiency. Physicians should be aware that undiagnosed maternal hyperparathyroidism can cause severe hypocalcemia in the newborn.

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Article of interest: Antibiotic exposure in infancy and risk of being overweight in the first 24 months of life.

Saari A, Virta LJ, Sankilampi U, Dunkel L, Saxen H. Antibiotic exposure in infancy and risk of being overweight in the first 24 months of life. Pediatrics. 2015 Apr;135(4):617-26.

OBJECTIVE: Antibiotics have direct effects on the human intestinal microbiota, particularly in infancy. Antibacterial agents promote growth in farm animals by unknown mechanisms, but little is known about their effects on human weight gain. Our aim was to evaluate the impact of antibiotic exposure during infancy on weight and height in healthy Finnish children.

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Bacterial flora of the oral cavity

Simón-Soro A, Tomás I, Cabrera-Rubio R, et al. Microbial geography of the oral cavity. J Dent Res. 2013 Jul;92(7):616-21.

We aimed to determine the bacterial diversity of different oral micro-niches and to assess whether saliva and plaque samples are representative of oral microbial composition. We took minute samples from each surface of the individual teeth and gingival crevices of two healthy volunteers (112 samples per donor), as well as samples from the tongue dorsum and non-stimulated and stimulated saliva. DNA was extracted from 67 selected samples of each donor, and the 16S rRNA gene was amplified by PCR and pyrosequenced to obtain, on average, over 2,700 reads per sample, which were taxonomically assigned to obtain a geographic map of bacterial diversity at each tooth and sulcus location. Analysis of the data shows considerable differences in bacterial composition between teeth at different intra-oral locations and between surfaces of the same tooth. The most pronounced differences were observed in incisors and canines, where genera like Streptococcus were found at 40% to 70% on the vestibular surfaces but were almost absent on the lingual sides. Saliva samples, especially non-stimulated saliva, were not representative of supra-and subgingival plaque in the two individuals tested. We suggest that more precise sampling is required for the proper determination of oral microbial composition and to relate that diversity to epidemiological, clinical, and etiological parameters.

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Article of interest: Snacks, sweetened beverages, added sugars, and schools.

COUNCIL ON SCHOOL HEALTH, COMMITTEE ON NUTRITION. (2015) Snacks, sweetened beverages, added sugars, and schools. Pediatrics, published online February 23, 2015.

Conclusions: Pediatricians can influence nutritional quality in schools directly through their participation as parents, as members of the school’s wellness council, as consultants, as sports team physicians, as members of the school board, as community advocates for child nutrition, or through the AAP or their state chapters. [51] In addition, physicians can encourage local schools to achieve national or state recognition for their wellness efforts, as exemplified by the USDA’s Healthier US Schools Challenge (http://www.fns.usda.gov/tn/healthierus/index.html). Counseling families and schools to seek a higher diet quality first, then to use the limited amounts
of acceptable discretionary calories in a thoughtful way, offers an effective tool to achieve the goals of the DGAs in school.

 

Article of interest: Safety of vaccines used for routine immunization of US children: a systematic review.

Maglione MA, Das L, Raaen L, Smith A, Chari R, Newberry S, Shanman R, Perry T,
Goetz MB, Gidengil C. Safety of vaccines used for routine immunization of US
children: a systematic review. Pediatrics. 2014 Aug;134(2):325-337.

Our findings may allay some patient, caregiver, and health care provider concerns. Strength of evidence is high that MMR vaccine is not associated with the onset of autism in children; this conclusion supports findings of all previous reviews on the topic. There is also high-strength evidence that MMR, DTaP, Td, Hib, and hepatitis B vaccines are not associated with childhood leukemia.

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