Congenital Hyporhinia with Associated Malformations: Case report of a rare Congenital Anomaly
Kenneth Mlay1 2, Desderius Chussi1 2, Philbert Mtenga1 2, Peter Shija1 2, Angela Msele1 2
Kilimanjaro Christian Medical Centre(KCMC), Moshi,Tanzania
Department of Otorhinolaryngology, Head and Neck surgery, Kilimanjaro Christian Medical University College (KCMUCo), Moshi, Tanzania
Corresponding Author:
Kenneth Mlay, Department of Otorhinolaryngology, Kilimanjaro Christian Medical Centre,
PO Box 3010, Moshi, Tanzania. Email:mlaykenneth43@gmail.com
Abstract
Congenital hyporhinia, also known as partial arhinia, is a very rare congenital abnormality of nasal embryogenesis with unknown etiology. It is commonly associated with other craniofacial anomalies which are thought to be caused by an absent or rudimentary nose. A 3 hours old neonate presented to our facility with hypoplastic nasal pyramid, hypertelorism, microcephaly, and micrognathia, A case of congenital hyporhinia with associated anomalies is presented and the embryology and literature review are discussed.
Introduction
Congenital partial arhinia or hyporhinia is very uncommon congenital nasal anomaly. Less than 40 cases of congenital arhinia have been reported in the available literatures, most of them defined as complete arhinia and only four cases were congenital hyporhinia1The cause is not clearly known and most cases are sporadic, but there are few familial cases which have been reported 2This pathology is usually found associated with other malformations affecting central nervous system, craniofacial, ear defects, and palatal clefts. Airway, feeding and phonetic problems are usually accompanying this pathology in children3High mortality rate is commonly associated with this congenital malformation. We report an extremely rare case of a congenital absence of the heminose (partial arhinia) in a 3-hrs-old girl with other associated anomalies. To the best of our knowledge this is among the few cases of heminose agenesis with associated malformations to be reported in the carefully reviewed literatures.
Case history
Attention of otorhinolaryngologist was drawn to review a 2 hrs old full term female neonate born from 17 years prime gravid, presented with nasal malformation, respiratory distress and bluish coloration, delivered vaginally with APGAR score 5 and 6 at 1stand 5th minute at a GA 36 weeks. Pregnancy was supervised with reported 3 antenatal visits, screened for malaria, syphilis and HIV which was negative. She received all important supplements and no complications or medical conditions brought into attention throughout pregnancy. Father 22 years and were not consanguineously married, no familial history of congenital malformations. Mother had no history of ingestion of any traditional medicines or exposure to radiation during her pregnancy; she does not smoke or drink alcohol and has never abused drugs.
Examination revealed birth weight of 3.2 kg with microcephaly. Had single nostril with remnants of alar cartilage barely palpable and a centrally placed single stenotic anterior nasal nare with pin point perforation. Columella, nasal septum and the philtrium were absent. Also she had microcephaly, high arched palate and hypotelorism (Fig. 1)
Initial stabilization was provided by maintenance of oral airway, and oxygenation. Trial to insert nasal gastric tube through the single nostril done which revealed anterior nare leading to 4mm deep single nasal cavity with atretic posterior choanae. There was ongoing discussion about stent insertion and tracheostomy, since some family members were hesitating for surgical intervention. Echocardiography was done and did not reveal any abnormality, Chromosomal analysis to delineate extent and cause of malformation was not done. Non-contrast computerized tomography scan of the brain (Fig. 2) revealed head and nose to be small with a cephalohematoma in the vertex and an intranasal soft tissue density lesion blocking the entrance measuring approximately 10 × 8 mm. Absence of the corpus callosum and septum pellucidum with a resulting monoventricle formed from the lateral ventricles. And meanwhile the baby continued to be nursed in neonatal ward she succumbed to death 6 days post admission due to severe respiratory failure