Publications by authors named "Nadia Merchant"

3 Publications

  • Page 1 of 1

McCune-Albright Syndrome With Unremitting Hyperthyroidism at Early Age: Management Perspective for Early Thyroidectomy.

Glob Pediatr Health 2019 9;6:2333794X19875153. Epub 2019 Sep 9.

Baylor College of Medicine, Houston, TX, USA.

. McCune-Albright syndrome (MAS) is characterized by hyperpigmented macules, endocrinopathies, and fibrous dysplasia. Hyperthyroidism is the second most common endocrinopathy in MAS and its management is challenging, particularly among infants and toddlers. Traditionally, young infants have been treated with antithyroid medications, but remission is likely and these medications have severe side effects and affect the control of other endocrinopathies. Thus, it is reasonable to consider permanent treatment options at an earlier age. In this article, we performed a retrospective chart review and describe 3 children who underwent thyroidectomy at an early age due to complex presentation. . Case 1 was a female patient who underwent bilateral adrenalectomy due to adrenal hyperplasia and subsequently underwent thyroidectomy at 5 months of age due to unremitting hyperthyroidism with fibrous dysplasia, multiple fractures, and ovarian cysts with vaginal bleeding. Case 2 was a 20-month-old female on methimazole who acquired influenza A, precipitating a thyroid storm, and subsequently developed central precocious puberty. Case 3 was a 4-year-old female who underwent thyroidectomy because of unremitting hyperthyroidism after methimazole cessation due to declining neutrophils. All 3 children experienced no complications from thyroidectomy. . Early thyroidectomy by an experienced surgeon is an option for managing MAS-associated hyperthyroidism, even in very young patients, with excellent results.
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http://dx.doi.org/10.1177/2333794X19875153DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6734602PMC
September 2019

Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine.

JIMD Rep 2017 30;35:33-37. Epub 2016 Nov 30.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA.

We report three patients with elevations of propionylcarnitine (C3), one without elevations of 2-methylcitrate and 3-hydroxypropionate in urine organic acid analysis, and the other two showing only mild elevations, all of whom were subsequently confirmed to have propionic acidemia by molecular analysis of PCCA and PCCB genes. To date, they have had a mild clinical course. These cases illustrate the importance of considering high C3 as the only biochemical abnormality in a diagnosis of propionic acidemia. Since mild C3 elevations may be overlooked and considered non-diagnostic in isolation, we advise considering a diagnosis of propionic acidemia even in the absence of significant elevations 2-methylcitrate or 3-hydroxypropionate in urine organic acid analysis.
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http://dx.doi.org/10.1007/8904_2016_21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5585109PMC
November 2016

Severe Pancytopenia in a Premature Infant.

Clin Pediatr (Phila) 2017 07 25;56(8):795-797. Epub 2016 Nov 25.

1 Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1177/0009922816678817DOI Listing
July 2017