A Transient form of Insulin-Requiring Diabetes Mellitus on a 15-Year-Old with Wolf-Hirschhorn Syndrome
Ana Bernardo Ferreira1*, Teresa Amaral Pinheiro1, Ana Luísa Barbosa2, Catarina Matos de Figueiredo1, Sara Oliveira1 and Sónia Aires1
1Pediatrics and Neonatology Department, Centro Hospitalar de Entre-o-Douro e Vouga, Portugal
2Internal Medicine Department, Centro Hospitalar de Entre-o-Douro e Vouga, Portugal
*Corresponding Author: Ana Bernardo Ferreira, Pediatrics and Neonatology Department, Centro Hospitalar de Entre-o-Douro e Vouga, Portugal.
January 12, 2022; Published: February 25, 2022
Wolf-Hirschhorn Syndrome is a rare disorder caused by a deletion in the short arm of chromosome 4. Depending on the genetic defect, phenotype variability can be extensive, with multi-systemic involvement. Diabetes mellitus classification depends on clinical characteristics, clinical course, and laboratory findings and has important implications. The authors report a case of a 15-year-old girl with Wolf-Hirschhorn Syndrome, who presented with Hyperglycemic Hyperosmolar Status and was diagnosed with diabetes. Insulin treatment was suspended four years after the diagnosis. The complexity of the case and the difficulties on classifying and understanding this transient form of pancreatic endocrine insufficiency are discussed.
Keywords: Wolf-Hirschhorn Syndrome; Diabetes Mellitus; Hyperglycemic Hyperosmolar Status; Diabetic Ketoacidosis; Transient Pancreatic Insufficiency
- Hirschhorn K., et al. “Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion”. Humangenetik 1 (1965): 479-482.
- Nevado J., et al. “International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay”. American Journal of Medical Genetics Part A (2019): 1-11.
- Battaglia A., et al. “Wolf-Hirschhorn syndrome: A review and update”. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics3 (2015): 216-223.
- Zollino M., et al. “On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review”. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics4 (2008): 257-269.
- Maas NMC., et al. “Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)”. Journal of Medical Genetics2 (2008): 71-80.
- American Diabetes Association. “2. Classification and Diagnosis of Diabetes: Standards of Medical Care in Diabetes-2018”. Diabetes Care1 (2018): S13-S27.
- Wolfsdorf JI., et al. “ISPAD Clinical Practice Consensus Guidelines 2018: Diabetic ketoacidosis and the hyperglycemic hyperosmolar state”. Pediatric Diabetes27 (2018): 155-177.
- Zeitler P., et al. “Hyperglycemic hyperosmolar syndrome in children: pathophysiological considerations and suggested guidelines for treatment”. The Journal of Pediatrics1 (2011): 9-14.
- Corrêa T., et al. "Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome". BioMed Research International2018 (2018): 1-10.
- Zollino M., et al. “Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2”. American Journal of Human Genetics3 (2003): 590-597.
- Nimura K., et al. “A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf-Hirschhorn syndrome”. Nature7252 (2009): 287-291.
- Boutzios G., et al. “Endocrine and metabolic aspects of the Wolfram syndrome”. Endocrine1 (2011): 10-13.
- Deeb A. “Diabetes Mellitus Secondary to Acute Pancreatitis in a Child with Wolf-Hirschhorn Syndrome”. Case Reports in Endocrinology 2017 (2017): 3892467.
- Lankisch PG., et al. “Natural course in chronic pancreatitis. Pain, exocrine and endocrine pancreatic insufficiency and prognosis of the disease”. Digestion3 (1993): 148-155.