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Case Reports Indian Pediatrics 2000;37: 1129-1133 |
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CHARGE Association - Need For Choanostomy |
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Nayana Prabha P.C. Jageer Hussain M. Vishnu Bhat B. Gopala Krishnan S.*
The mnemonic CHARGE is used to describe the association of coloboma, heart disease, atresia choanae, retarded growth and development with or without central nervous system anomalies, genital hypoplasia and ear anomalies and/or deafness(1,2). Although, various anomalies have been described, most reported cases do not have all the features. Choanal stenosis/atresia requiring surgical correction during the immediate newborn period has not been documented. We report a case with characteristic features who needed choanostomy for respiratory distress along with review of literature.
A term male child weighing 2.9 kg was born to a fourth gravida consanguineous mother by spontaneous vaginal delivery. The mother had two abortions and one normal child. There was no history of drug intake and radiation exposure or significant illness during the antenatal period. The labor was augmented with oxytocin because of oligohydramnios and abruptio placentae. The Apgar scores were 1/10, 3/10 and 7/10 at one, five and ten minutes, respectively. There was respiratory distress in the form of chest retractions, tachypnea and audible grunt with a cumulative Downe’s score of 6/10. Auscultation revealed bilateral crepitations. The baby had prominent eyeballs, bilateral inferonasal coloboma with inferior choroidal coloboma, lowset ears and small right ear lobule, (Figs. 1 & 2), micropenis and bilateral cryptorchidism (Fig. 3). There was a grade III/VI systolic murmur over the precordium. Nasogastric tube could not be passed through both the nostrils and it was noted that the respiratory distress worsened when the mouth was closed suggestive of bilateral choanal atresia. The activity and cry were poor, Moro’s reflex was incomplete and only the abductor phase was elicitable.
The baby was managed with intravenous fluids, oxygen and antibiotics. Orogastric feeding was initiated from third day of life and oral feeding by spoon from tenth day. Echo-cardiography showed an ostium secundum atrial septal defect with right atrial and ventricular dilatation with an intact ventricular septum. CT scan demonstrated a bony plate 7-9 mm obstructing the choanae. Eye karyo-typing showed normal 46XY chromosomes. Cardiac decongestive measures were started on the tenth day of life on account of congestive cardiac failure. Bilateral choanostomy was performed on twenty fifth day of life. Under general anesthesia, a 3.5 mm plastic stent was applied to both nostrils and the child was discharged with the nasal stent in situ. The stent was removed during followup and the baby was able to breathe through the nostrils without difficulty and was gaining weight.
The CHARGE mnemonic was first coined by Pagon et al. to describe the features of this nonrandom association of coloboma, heart disease, atresia choanae, retarded growth and development, genital hypoplasia and ear anomalies or deafness(1). In addition facial palsy, micrognathia, cleft palate, swallowing difficulties and tracheoesophageal fistula were also reported in the same series. This nonrandom pattern of congenital anomalies occur together more frequently than one would expect on the basis of chance with an estimated prevalence of 1:10,000(3). The diagnostic criteria of Pagon et al.(1) required that atleast four of the seven major features should be present and should include coloboma or choanal atresia or both. Harris et al.(4) proposed that the term CHARGE should be restricted to infants with multiple malformations and choanal atresia and or coloboma combined with other cardinal malformations involving the heart, ear and genitals. Growth retardation was excluded, from this definition which was based upon the epidemiological data derived from the California birth defects monitoring program(4). The revised diagnostic criteria by Blake et al.(3) proposed that one or two major criteria of bilateral choanal atresia and external ear anomalies and several minor characteristics should be present in an infant considered as having CHARGE association. Choanal atresia should serve as the primary feature which produces a high index of suspicion and focusses attention on other organ systems such as eye and heart(5). Choanal atresia may be membranous and or bony obstruction of the posterior choanae. It may be bilateral or unilateral. Polyhydramnios is seen in most cases with bilateral choanal atresia(5). But in our case ohigohydraminos was present. The heart defect commonly seen in CHARGE association is tetralogy of Fallot (33%). Other anomalies seen were patent ductus arteriosus, double outlet right ventricle with atrioventricular canal, ventricular septal defect and atrial septal defect with cleft mitral value. A right aortic arch and an aberrant left subclavian artery forming a vascular ring was seen in one case(1). The eye abnormalities ranged from typical iris coloboma without visual impairment to clinical anophthalmos, Coloboma of the choroid or optic nerve, microphthalmia and strabismus have been reported. Coloboma may be bilateral or unilateral(5). Mental retardation was seen commonly with the IQ ranging from near normal to profound retardation(1). Fusion of the frontal lobes and small olfactory tracts or arhinencephaly, were seen in the series studies by Pagon et al.(1,6). Varying degrees of hypopituitarism and hypogonadism have been independently reported to be associated with CHARGE association. Short stature is one of the major manifestations as described by Pagon et al.(1). Growth retardation may also be due to infection and feeding difficulties because of poor sucking and swallowing due to micrognathia and cleft palate. Most patients, as a result though normal at birth show linear growth below the third percentile during the first six months of life(1). Some of the patients with CHARGE association may present later in life due to problems related to associated anomalies. Detailed investigations of such cases may suggest the diagnosis of CHARGE association(2). Microphallus, penile agenesis, hypo-spadias, chordee, cryptorchidism, bifid scrotum, atresia of uterus, cervix and vagina, hypoplastic labia and clitoris are the genital anomalies described. Renal anomalies reported are solitary kidney, hydronephrosis, renal hypoplasia and duplex kidneys, vesicoureteral reflux, neurogenic bladder secondary to spinal dysraphism, nephrolithiasis, ureteropelvic junction obstruction and a nonfunctioning upper pole in both duplex kidneys(7). Our patient had microphallus and bilateral crypt-orchidism. Ultrasonography of the abdomen did not show renal anomalies. Ear anomalies were reported in 80-100% in different series. Small lowset and deformed ears without being microtic as seen in the present case was the most common abnormality. Malformed pinna, facial nerve palsies were noted to be reliable predictors of sensorineural hearing loss. The characteristic abnormality demonstrated by CT scan of the temporal bone were hypoplastic incus and absent semicircular canals. Posterior choanal abnormalities occur in about 50% and they may be unilateral or bilateral(8). Deafness was seen in 40% of the patients and it could be conductive or mixed loss. Chronic otitis media and deafness can be associated complications of choanal atresia. Sensorineural deafness can be diagnosed by audiograms or BERA(9). Audiograms may be difficult to perform in developmentally delayed children with the CHARGE association. In our patient, CT scan confirmed bilateral choanal atresia but did not show temporal bone abnormalities. The defects in CHARGE association can be attributed to arrest of embryologic differen-tiation during the thirty fifth to forty fifth days. As a result speculation regarding the possibility of a teratogen remains(1). The CHARGE association is usually sporadic and its origins are unknown. There are rare familial cases of autosomal dominant etiology where one parent was affected. Autosomal recessive inheritance was proposed in affected sibs whose parents were normal. One parent of these sibs may carry, but not express an autosomal dominant gene(10). The phenotypic findings of CHARGE association is seen in those with unbalanced translocation at t (2:18), t (3:22), t (6:8) and microdeletions at 22q11.2 region, trisomy 13, 18q trisomy, trisomy 18, velocardiofacial syndrome, Noonan syndrome, Treacher Collins syndrome, Pena Shokeir syndrome and Stickler syndrome(5). Management of infants with CHARGE association involves a multidisciplinary approach. Early identification and intervention of specific defects are required. Infants with CHARGE association who survive the early infancy have a better prognosis for growth and mental development(11). In a study by Wyse et al. of 59 patients the survival was found to be poor with more than one of the following features, i.e., cyanotic cardiac lesion, bilateral posterior choanal atresia and tracheo-esophageal fistula. The mortality was found to be due to the underlying pharyngeal and laryngeal incoordination which resulted in aspiration of secretions, recurrent chest infections and lung involvement rather than structural defects per se(12). The normal parents of a child with this association appear to have a low risk for similarly affected child. But this assumption can be made only after excluding all known entities including chromosomal disorders(1,2). The possibility of undefined etiologic diversity in this association should be kept in mind when genetic counselling is offered. Hence, karyotyping of all patients with this spectrum is advisable. More research is required in this grey area of CHARGE association so that more accurate counselling regarding prognosis and recurrence risk can be given to each parent. Contributors: NP, JH and VB evaluated the baby and prepared the manuscript. GK did the choanostomy of the baby for respiratory obstruction. Funding:
None.
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