Greek Warrior Helmet Facies ( Wolf-hirschhorn Syndrome )

Address for correspondence: Dr. Prativa Biswas E-mail: prativa1108@gmail.com 1Dr. Prativa Biswas, MBBS, MD, RMO cum Clinical Tutor, Department of Paediatrics, Midnapur Medical College and Hospital, Paschim Midnapur, 2Dr. Rupam Choudhury, MBBS, Junior Resident, Department of Tropical Medicine, School of Tropical Medicine, Kolkata, 3Dr. Sibnath Gayen, MBBS, MD, Assistant Professor, Department of Paediatrics, R.G. Kar Medical College and Hospital, Kolkata, 4Dr, Debashree Guha, MBBS, MD, RMO cum Clinical Tutor, Department of Paediatrics, R.G. Kar Medical College and Hospital, Kolkata, 5Dr. Sutirtha Roy, MBBS, Medical Officer, Department of Neonatology, R.G. Kar Medical College And Hospital, Kolkata, 6Professor Dr. Malay Kumar Dasgupta, MBBS, MD, Professor, Department of Paediatrics, R.G. Kar Medical College and Hospital, Kolkata. Department AttributedDepartment of Paediatrics, R.G.Kar Medical College, Kolkata. Abstract


Introduction
W olf-Hirschhorn syndrome (WHS) is caused by a chromosomal dele on of the band 4p16.3 1 and was fi rst described in 1961 by the Herbert L. Cooper and Kurt Hirschhorn 2 and therea er by Ulrich Wolf, and Hirschhorn and their co-workers in 1965 in the ar cles in the German scien fi c magazine 'Humangene k' 3.4 . Wolf-Hirschhorn syndrome is a congenital malforma on syndrome characterized by pre-and postnatal growth defi ciency, developmental disability of variable degree, characteris c craniofacial features -'Greek warrior helmet' 5 facies (prominent glabella, hypertelorism, broad beaked nose and frontal bossing), high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, dis nct mouth with downturned corners,micrognathia, dysplas c ears, preauricular tags), and a seizure disorder. The typical craniofacial phenotype in combina on with mental retarda on, seizures, congenital heart defects, genital and renal anomalies is indica ve of the diagnosis 6.7 . Most of pa ents with WHS have a de novo dele on, usually on the paternal chromosome 8 . De novo unbalanced transloca ons have also been described in 1.6% of WHS pa ents 9 . The transloca on t (4;8)(p16;p23) 10 may be the most frequent a er t(11q;22q), which is the most common reciprocal transloca on in humans 11 . It can be demonstrated by FISH(Fluorescence in situ hybridiza on) technique in cytogene cally normal parents of aff ected off spring 12 . A familial transloca on is responsible for only 5 -13 % of cases 13 . WHS is mostly maternally inherited with a 2:1 ra o female to males 14 .

The Case
Here we report a case of female neonate born of a term gesta on to a 24 yrs old second gravida. Baby was low birth weight (2kgs) and presented with dysmorphic facies and respiratory distress along with scalp deformity.
It was a case of normal delivery and antenatal history was uneven ul. However there was history of previous child's death in early neonatal period.
Baby was tachypneic (respiratory rate of 80/min with bilateral subcostal suc on) and needed oxygen, 10% dextrose as intravenous fl uid and kept under radiant warmer on servo-control mode.
On examina on baby had characteris c dysmorphic facies-prominent glabella, hypertelorism, broad beaked nose and frontal bossing, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, dis nct mouth with downturned corners, and micrognathia-'Greek warrior helmet' (Figure1). Baby had polydactyly and syndactyly ( On palpa on there was scalp defect with coming out of meninges and brain ma er through the defectmeningo encephalocoel. ( Figure 5). Baby showed generalized hypotonia. Baby developed seizure at 2 hours of age and capillary blood glucose was 86gms/ dl, calcium 9gms/dl and seizure was controlled by injec on phenobarbitone. Baby developed intractable convulsions which was not controlled with mul ple an convulsants (phenobarbitone, Phenytoin, Lorazepam, Midazolam) and succumbed to death within nine hours of birth.
Inves ga ons: CT scan of brain ( Figure 6) showed evidence of wide (22mm) bony gap seen in occipito-parietal region with associated meningoencephalocele along with mul ple septate cys c areas within it. There was evidence of mul ple air-bubbles seen within the herniated component and also within brain parenchyma of occipital lobe. Cerebral sulci are eff aced due to lissencephaly. No signifi cant grey-white diff eren a on seen with loss of diff eren a on of diff erent deep grey-ma er regions. Apart from frontal horn of le ventricle, rest of ventricular system is not iden fi ed. Deformity of facial bone with micrognathia is sugges ve from CT scan of brain.
Non-contrast CT scan (NCCT) of thorax ( Figure  7) and abdomen ( Figure 8) shows ill-defi ned areas of consolida on with air-bronchogram and associated ground-glass haze, seen to occupy almost whole of both lung fi elds, sparing anterior aspects of basessugges ve of hyaline membrane disease. Medias nal vascular structures were normal. No signifi cant abnormali es were seen in abdominal structures from NCCT except hepatomegaly. Echocardiography showed no congenital structural abnormality.
Since the fi rst Case report in 1961, about 159 cases have been published to ll date 18 . Due to limited facili es for cytogene c studies in India as well as in other developing countries, confi rmatory diagnosis cannot be established in majority of cases. This may be the reason for the less number of published cases.

Conclusion
In a child with a clinical en ty of mental retarda on, associated with dysmorphic features and congenital anomalies, cytogene c studies may help establish a specifi c diagnosis, which can predict the clinical outcome. There is no treatment available for this rare gene c syndrome but a mul disciplinary team approach is required including rehabilita on, speech communica on therapy and gene c counselling. The risk of a parent having another child is unlikely unless the parent is a carrier of the disorder. Thus, parental advice for prenatal diagnosis should also be taken into considera on where facili es allow.