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conferenceseries
.com
Volume 6, Issue 3 (Suppl)
J Neonatal Biol, an open access journal
ISSN:2167-0897
Neonatology 2017
December 04-06, 2017
December 04-06, 2017 | Madrid, Spain
20
th
International Conference on
NEONATOLOGY AND PERINATOLOGY
Updated diagnostic criteriae defining ‘CHARGE’ Syndrome: A case scenario
Laxmi S Hadalagi, Priyadarshini M K, Arali Chanbasu, Deepika M
and
L H Bidari
Dr. Bidari’s Ashwini Hospital and Research Institute, India
Introduction:
Pageon et al coined the term ‘CHARGE’ an acronym to 5 major features. Restricted criteria of Pageon and Blake
et al, dichotomously divided, made diagnosis of this entity rare, giving rise to ‘possibly’ CHARGE or ‘Near’ CHARGE like terms.
Major Signs of CHARGE Syndrome are (3C): Coloboma(iris/choroid, with or without microphthalmia, Atresia of choanae,
Hypoplastic semi-circular Canals. The Minor Signs of CHARGE Syndrome are, Rhombencephalic dysfunction(brainstem
dysfunctions, cranial nerve VIIto XII palsies and neurosensory deafness), Hypothalamo-hypophyseal dysfunction(including
GH and gonadotrophin deficiencies), Abnormal middle or external ear, Malformation of mediastinal organs(heart,esophagus)
and Mental retardation.
Case Discussion:
Term, AGA, Male baby, 4th order birth to Non-consanguinously married couple, delivered by normal
vaginal route, through meconium stained amniotic fluid, birth weight being 3.2 kgs. Mild respiratory distress since birth
required supplemental oxygen and referred to us on D4. On admission, baby had significant respiratory distress, Downe’s score
being 6/10, taken on conventional mechanical ventilation for 48 hours, weaned to hood. Dysmorphic features observed were
bilateral nanophthalmos, high and narrow arched palate, Lt.choanal atresia. Chest Xray showed fluffy opacities in bilateral
lungs, Echo screening showed 2 ASDs, 1 VSD, USG abdomen revealed Rt Renal agenesis, MRI Brain being normal, OAE b/l
ear-Refer. Ophthalmologist opined very guarded prognosis of vision.
Discussion:
CHARGE is characterized by very specific developmental anomalies of optic vesicle, otic capsule, midline CNS
structures and upper pharynx. Updated definition of CHARGE reinforces very specific embryological defects avoiding
inclusion of nonspecific or secondary anomalies and dismiss sex-dependent criteria. 3Major criteriae refer to 3 non-overlapping
embryonic territories, 5 Minor criteriae to topographically distinct areas. Hence 3 major criteria fulfilled in our case study,
defines the syndrome.
Biography
Laxmi S Hadalagi, after completing MBBS in the year 2002 at my hometown, she perceived paediatrics as she was very much interested in this field and completed
my postgraduation in reputed medical college of Karnataka i.e Bapuji and Chigateri Government Hospital, Davangere, Karnataka. Seeing many neonates suffering
from birth asphyxia, she always questioned herself, Is there no treatment available to prevent damage of these growing brains???This zeal took her towards
doing Fellowship in Neonatal and Perinatal Medicine and started working at a Tertiary Care Unit catering to peripheries, started Therapeutic Hypothermia with
Cerebral Function Monitoring and Erythropoietin to reduce neuronal damage. This has given them satisfactory results interms of mortality and neurodevelopmental
outcome. She had been to Georgetown University Hospital, Washington DC,2015, as GIANI Scholar Awardee(By AAP and NNF), appreciating her research work
and community level works. She is now working as Unit Incharge, examiner for Fellowshipexam for Doctors and Nurses in Neonatology, also Board of Advisor for
Public-Private Partnership(VIJINAP 2016) to upgrade our government hospitals to meeting health demands of our society. Conduct regular workshops/CME for
doctors and nurses to keep them updated.
dr.laxmihadalgi@gmail.comLaxmi S Hadalagi, J Neonatal Biol 2017, 6:3(Suppl)
DOI: 10.4172/2167-0897-C1-006