THE EYES AND SKIN AS THE WINDOWS TO THE BRAIN

Authors

  • Hui Hui E
  • Arini NI
  • Che Zubaidah CD
  • Poi Giok L

Keywords:

Eyes, Skin, Brain, pituitary, Aplasia cutis congenita

Abstract

INTRODUCTION
The pituitary glands and the eyes stem from the same embryonic origin, which is the anterior neural ridge. Hence, various ocular malformations are reported in the presence of hypopituitarism. Aplasia cutis congenita, on the other hand, is characterized by partial or complete absence of the skin as a result of failure in ectodermal fusion. It can occur as a constellation of ocular involvement, skin lesion and cerebral malformations. We aim to report on a case of aplasia cutis congenita with microphthalmia and coloboma, and subsequently diagnosed as hypopituitarism.

METHODOLOGY
A baby girl was delivered at full term via emergency LSCS due to poor progress of labour. Ventriculomegaly and absence of corpus callosum were detected antenatally. Clinically, there was a defect over left side of her forehead and temporal scalp. The lesion, measuring 7 cm x 3 cm, was longitudinal in shape, erythematous with visible membranous-like structure underneath. Ophthalmology assessment revealed left microphthalmia and optic disc coloboma at the right eye. MRI brain showed atrophied left globe associated with colpocephaly, callosal agenesis and cerebellar hypoplasia. Pituitary glands appeared to be normal.

RESULTS
Her thyroid function test at day 5 of life (T4 9.34 pmol/L/ TSH 2.23 mIU/L) was suggestive of hypothyroidism. L-thyroxine was started. At day 7 of life, she developed hypernatraemia (serum sodium ranged 151-156 mmol/l). Her urine osmolarity (89 mOsm/kg) and serum osmolarity (324 mOsm/kg) were suggestive of diabetes insipidus. The biochemical abnormality resolved with desmopressin. Despite euglycaemia and normal blood pressure, her serum cortisol was low (87.7 nmol/l). She was started on hydrocortisone. She was discharged well and will be reviewed in our outpatient clinic.

CONCLUSION
Current literature has yet to report on the association between aplasia cutis congenita and hypopituitarism. In the presence of other malformations, in particularly ocular involvement, it will be worth screening for pituitary insufficiencies for early detection and intervention.

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Author Biographies

Hui Hui E

Paediatric Department, Women and Children Hospital, Kuala Lumpur, Malaysia

Arini NI

Paediatric Department, Women and Children Hospital, Kuala Lumpur, Malaysia

Che Zubaidah CD

Radiology Department, Women and Children Hospital, Kuala Lumpur, Malaysia

Poi Giok L

Paediatric Department, Women and Children Hospital, KualaLumpur, Malaysia

References

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Published

2019-07-17

How to Cite

E, H. H., NI, A. ., CD, C. Z. ., & L, P. G. (2019). THE EYES AND SKIN AS THE WINDOWS TO THE BRAIN. Journal of the ASEAN Federation of Endocrine Societies, 34, 66. Retrieved from https://asean-endocrinejournal.org/index.php/JAFES/article/view/4367

Issue

Section

Abstracts for Poster Presentation | Paediatric