A case of PHACE syndrome with growth hormone deficiency and abnormal thyroid functions
-
Chansuda Bongsebandhu-phubhakdi
,
Therdpong Tempark
Abstract
Background
PHACE syndrome is a rare vascular neurocutaneous disorder characterized by posterior fossa anomalies, hemangioma, arterial anomalies, cardiac anomalies and eye anomalies. Growth hormone deficiency (GHD) has been infrequently described.
Case presentation
We report a girl with PHACE syndrome. Endocrine abnormalities including abnormal thyroid functions and GHD have recently been described in similar cases.
Conclusions
This case suggests the necessity to screen pituitary functions in all patients with PHACE syndrome with abnormal hypothalamus and pituitary (HP) anatomy. Likewise, growth parameters and thyroid function test (TFT) should be monitored in all patients with PHACE syndrome at regular intervals.
Acknowledgments
We thank our patient’s parents who provided information and investigation results from primary hospital.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission. CB: interpretation of data, conception and design, conduct the work, drafting and revising the article; TT: conception and design, conduct of the work, revising the article; KJ: conduct the work, drafting and revising the article; VS: conception and design, conduct of the work, revising the article.
Research funding: Grants for Development of New Faculty Staff, Ratchadaphiseksomphot Endowment Fund, Chulalongkorn University.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
References
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©2019 Walter de Gruyter GmbH, Berlin/Boston
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Articles in the same Issue
- Frontmatter
- Editorial
- Hypo- and hyperthyroidism in early life – new developments
- Letters to the Editor
- Optic nerve sheath diameter appraisal in children affected by diabetic ketoacidosis
- Optic nerve sheath diameter ultrasound measurement to evaluate cerebral edema in children with diabetic ketoacidosis
- Original Articles
- Novel ABCD1 gene mutations in Iranian pedigrees with X-linked adrenoleukodystrophy
- Phenylketonuric patients represent their disease
- Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1
- Genetic testing of two Pakistani patients affected with rare autosomal recessive Fanconi-Bickel syndrome and identification of a novel SLC2A2 splice site variant
- Sex differences in infant body composition emerge in the first 5 months of life
- Characterization of the duration of treatment with diazoxide in infants with prolonged hyperinsulinism (PHI)
- Clinical, biochemical and gender characteristics of 97 prepubertal children with premature adrenarche
- The adjustment of 17-hydroxyprogesterone cut-off values for congenital adrenal hyperplasia neonatal screening by GSP according to gestational age and age at sampling
- The role of vitamin D replacement therapy in serum FGF23 concentration in children with myelomeningocele compared with healthy children – a preliminary study
- Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidism
- Congenital hypothyroidism in preterm infants: a 3- to 8-year longitudinal study in southern Thailand
- Case Reports
- A case of PHACE syndrome with growth hormone deficiency and abnormal thyroid functions
- A novel DCAF17 homozygous mutation in a girl with Woodhouse-Sakati syndrome and review of the current literature
- Acquired von Willebrand’s syndrome caused by primary hypothyroidism in a 5-year-old girl
- Double variants in TSHR and DUOX2 in a patient with hypothyroidism: case report
