CASE REPORTS

ATYPICAL PRESENTATION OF GOLDENHAR’S SYNDROMEHemkala Trivedi, Vivek Arbhave, Hemant Todkar, Chhaya Shinde, Naina Potdar, Anish Nikhra

 A child of 5 years reported with complaints of inability to close both eyelids due to swelling on bulbar conjunctiva. On examination both eyes upper lid showed coloboma with old scars of surgery. Right eye bulbar conjunctiva showed a lipodermoid on temporal side while left eye showed limbal dermoid inferiorily at 6o clock. Fundoscopic examination was normal. Preauricular showed multiple skin tags. Both sides zygomatic bone showed hypoplasia. X-ray skull, X-ray spine, X-ray lung, CT Brain and clinical evaluation confirmed our diagnosis. The indifferent presentation without vertebral, auricular and systemic features made this case to be reported. INTRODUCTION

   

   Goldenhar syndrome, a term that is often used synonymously with “Oculo-Auriculo-Vertebral (OAV) spectrum,” is a rare disorder that is apparent at birth (congenital). The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. However, such abnormalities tend to involve the cheekbones, jaws, mouth, ears, eyes and/or bones of the spinal column (vertebrae). Although, in most cases, such malformations affect one side of the body (unilateral), approximately 10 to 33 per cent of affected individuals have such malformations on both sides of the body (bilateral), with one side typically more affected than the

other (asymmetry). In the majority of such cases, the right side is more severely affected than the left. Again, although Goldenhar syndrome (OAV spectrum) is an extremely variable disorder, abnormalities typically affect certain portions of the head and facial (craniofacial) area and/or bones of the spinal column (vertebrae). Due to craniofacial malformations, an affected individual’s face may appear smaller on one side than the other (hemifacial microsomia); in addition, if both sides are affected (bilateral), the face may appear dissimilar from one side to the other (facial asymmetry). Craniofacial abnormalities may include underdevelopment of the cheekbones (malar hypoplasia), bones of the upper and lower jaws (maxillary and mandibular hypoplasia), and the bones forming a portion of the lower skull (temporal hypoplasia); incomplete development of certain muscles of the face; an abnormally wide mouth (macrostomia); incomplete closure of the roof of the mouth (cleft palate); an abnormal groove in the upper lip (cleft lip); and/or abnormalities of the teeth. Affected individuals may also exhibit absence (anotia) and/or malformation (microtia) of the outer ears (auricles or pinnae); narrow, blind ending, or absent external ear canals (atresia); abnormal outgrowths of skin and cartilage on or in front of the ears (preauricular tags); and/or abnormalities affecting the middle and/or inner ears, contributing to or resulting in hearing impairment (i.e., conductive and/or sensorineural hearing loss). Eye abnormalities may also be present including the formation of cysts on the eyeballs (epibulbar dermoids and lipodermoids), partial absence of tissue (coloboma) from the upper eyelids, abnormal smallness of the eye (microphthalmia), narrowing of the eyelid folds (palpebral fissures) between the upper and lower eyelids (blepharophimosis), crossing of the eyes (strabismus), and/or other eye abnormalities. Vertebral malformations associated with Goldenhar syndrome (OAV spectrum) may include incomplete development (hypoplasia), fusion, and/or absence of certain vertebrae. In addition, many affected individuals may have additional skeletal, neurological, heart (cardiac), lung (pulmonary), kidney (renal), and/or gastrointestinal abnormalities. In approximately five to 15 per cent of affected individuals, mild mental retardation may also be present. A variety of terms has been used to describe this extremely variable disorder. According to the medical literature, when malformations primarily involve the jaw, mouth, and ears and in most cases, affect one side of the body (unilateral), the disorder is often referred to as “Hemifacial Microsomia”. If abnormalities of the vertebrae and the eyes are also present, the disorder is often called “Goldenhar syndrome”. Within the medical literature, the term “Oculo-Auriculo-Vertebral (OAV) spectrum” is often used synonymously with Goldenhar syndrome and Hemifacial Microsomia. However, due to the complexity and varying severity and expression of the OAV spectrum, some researchers suggest that Hemifacial Microsomia and Goldenhar syndrome actually represent different aspects or levels of severity of OAV spectrum. In most cases, Goldenhar syndrome (OAV spectrum) appears to occur randomly, with no apparent cause (sporadic). However, in some cases, positive family histories have been present that have suggested autosomal dominant or recessive inheritance. In addition, some researchers suggest that the disorder may be caused by the interaction of many genes, possibly in combination with environmental factors (multifactorial inheritance). CASE REPORTA child of five year reported in ophthalmology department of TNMC, BYL Nair Hospital with complaints of inability to close both eyelids due to swelling on conjunctiva of both eyes since birth. The patient was examined and his vision was found to be 6/60 right eye and 6/24 in left eye. Right eye showed a scar of surgery on the lower lid while left eye upper lid also showed a scar of surgery. Both eyes showed upper lid coloboma with microphthalmia. Right eye bulbar conjunctiva showed a lipodermoid on temporal side while left eye showed limbal dermoid inferiorly at 6 O' clock. Intraocular tension in both eyes was normal. Extraocular movements were normal. Both eye fundoscopy was normal. Slit-lamp examination revealed the same findings mentioned above with anterior chambers and lens appearing normal. On examination of the preauricular area on both sides showed multiple skin tags. Jaw appeared normal. Both side Zygomatic bone showed hypoplasia mandible appeared normal. On investigation X-ray skull showed accentuation, compression on skull vault, hydrocephalus, dolicephalus with softening of skull. Mandible appeared normal. X-ray cervical spine showed normal vertebrae and disc spaces. The patient was advised for plastic surgery construction procedure. CT scan showed agenesis of corpus collosum X-ray chest was normal. DISCUSSIONIGoldenhars syndrome is often used synonymously with “Oculo-Auriculo vertebral spectrum” is a rare disorder that is present at birth.2 This disorders is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case.3 Approximately 10 to 33 per cent of affected individuals have such malformation on both sides of the body with one side typically affected more than the other. It is inherited as autosomal dominant or autosomal recessive.4 Some suggests that there may be interaction of many genes possibly in combination with environmental factors. In our case the patient had both eyes upper lid coloboma, for which rearranging of available tissue or Z-plasty was suggested. Removal of limbal dermoid of both eyes was also suggested

to enable the patient to close his eyes. The indifferent presentation without vertebral, auricular and systemic features made this case to be reported. CONCLUSIONIsolated colonic tuberculosis perforation being the rarest form of intestinal tuberculosis poses great difficulty in diagnosis. High index of suspicion, supported by radiological investigation, exploratory laparotomy and histopathological examination of tissue biopsy can only lead to a definitive diagnosis of this rare condition. Surgical treatment involves either primary suturing or stomas followed by Antituberculosis Chemotherapy. REFERENCES

1. Korlin R, Jue K, Jacohsen U, et al. Oculoauriculovertebral dysplasia. J Paediatric 1963; 63 : 991

2. Pantos RW, Sugar JM. Excision of limbal desmoids. Ophthalmic Surg 1991; 22 : 85-9.

3. Sugas HS. The oculoauriculo vertebral dysplasia syndrome of Goldenhar. Am J Ophthalmol 1966; 62 : 678-82

4. Shields JA, Shields Ch Depottes, surgical management of conjunctival tumours. Arch Ophthalmol 1997; 115 : 505-15.

5. Sherman RP, Roofman J, Ha Point JS. Dermoids clinical presentation a management. Br J Ophthal 1984; 68 : 642-52.

6. Ziauras E, Farbew MCC. Diamond CCA pedunculated lipodermoid in auriculovertebral dysplasia. Arch Ophthal 1990; 108 : 2032-33.

 

HYDRALAZINE IS NOT THE BEST ANTIHYPERTENSIVE IN PREGNANCY

Hydralazine is less effective than nifedipine or isradipine for treating severe hypertension in pregnancy. In a meta-analysis of randomised controlled trials published in 1966-2002, Magee and colleagues analysed data from 21 trials that included 893 women with severe hypertension in pregnancy. Although not robust enough to guide clinical practice, the results do not support the use of hydralazine

BMJ 2003; 327 : 955