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Bardet Biedl Syndrome with Atypical Features of Hemimandibular Hypoplesia and Microtia

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Bardet Biedl Syndrome with Atypical Features of Hemimandibular Hypoplesia and Microtia BARDET BIEDL SYNDROME WITH ATYPICAL FEATURES OF HEMIMANDIBULAR HYPOPLESIA AND MICROTIA Deepak Mishra1, Prashant Bhushan2, B.P. Sinha1, M.K.Singh2, Om Kumar3 ijcrr 1Regional Institute of Ophthalmology, Indira Gandhi Institute of Medical Vol 03 issue 12 Sciences, Patna, India 2 Category: Case Report Department of Ophthalmology, IMS, BHU, Varanasi, India 3Department of Nephrology, Indira Gandhi Institute of Medical Sciences, Received on:06/10/11 Patna Revised on:17/10/11 E-mail of Corresponding Author: [email protected] Accepted on:29/10/11 ABSTRACT Purpose. Bardet Biedal Syndrome (BBS) is a multiorgan syndrome affecting mainly the eyes, extremities, gonads & renal system etc. Method. Case report. Results The patient had common features of BBS like retinitis pigmentosa, mental & growth retardation, hypogenitalism, syndactyly and polydactyly along with atypical features like microtia, hemimandibular hypoplesia & pigeon shaped chest which are not reported in the literatures as for our best knowledge. Conclusions. Hemimandibular hypoplesia, microtia (small ear) & pigeon chest should also be considered as an association of Bardet Biedal Syndrome ( BBS). ______________________________________________________________________ Key Words. Bardet Biedal Syndrome, Case report Hemimandibular hypoplesia, Pigeon chest, An 18 year old male patient born to non- Microtia consanguineous parents reported to Regional Institute of Ophthalmology, INTRODUCTION IGIMS, Patna, for night blindness. Birth Bardet- Biedl syndrome is a genetic history was uneventful, full-term, normal autosomal recessive disease (formerly delivered. On examination, the BCVA in grouped with Laurence - Moon – Biedl both eyes was 20/ 40. On examination, syndrome but considered today as separate patient revealed hexadactyly in both upper entity). It is characterized by retinal limbs and syndactyly in lower limbs (fig.- dystrophy or pigmentary retinopathy, 1A). He had small ears (microtia), left Dysmorphic extremities (Syndactyly, sided hemimandibular hypoplesia and brachydactyly, or polydactyly), mental pigeon shaped chest (fig.-1B). His external retardation, truncal Obesity, hypogonadism genitalia were underdeveloped. He was or hypogenitalism (limited to male mentally retarded. Milestones were delayed patients) 1, 2 .We report a case of Bardet- as per age. He was short statured (fig.-1A). Biedl syndrome with the classical features The dilated fundus examination revealed along with atypical features like small ear, macular wrinkling; mild attenuated vessels, hemimandibular hypoplesia and pigeon and marked peripheral bone-spicules shaped chest. pigmentation (fig-1C). His visual field analysis couldn‘t be performed due to poor mental intelligence. 173 International Journal of Current Research and Review www.ijcrr.com Vol. 03 issue 12 December 2011 The patient had common like small ears, hemimandibular hypoplesia features of BBS like retinitis pigmentosa, & pigeon shaped chest. These features (last mental & growth retardation, 3) were not reported in literatures as for our hypogenitalism, syndactyly and best knowledge. polydactyly along with atypical features Fig.1A Fig.1B 174 International Journal of Current Research and Review www.ijcrr.com Vol. 03 issue 12 December 2011 Fig.1C DISCUSSION TRIM32/BBS11 and BBS12. Molecular Bardet - Biedl – Syndrome (BBS) is an testing is available on a clinical basis for inherited genetic condition that affects 1 in M390R, the common mutation in BBS1 100,000 babies born. It was described after that is approximately 18%-32% of the four doctors who described the individuals with BBS. symptoms of the syndrome. It was first Incomplete manifestation of the five described by John Z. Laurence and Robert cardinal features is the rule rather than Moon. The basic components of the exception in BBS. Prosperi et al.4 estimated syndrome were established by George from previous reports that 40% to 45% of Bardet in 1920 and Arthur Biedl in 1922. cases are incomplete. Pigmentary changes Laurence-moon syndrome is considered to (90-100%) is the most common features comprise retinal dystrophy, obesity, followed by mental retardation (85-87%) hypogenitalism, and spastic paraparesis and polydactyly (75%)5. The fundal without polydactyly. involvement in BBS is an atypical BBS is a combination of two syndromes, pigmentary retinal dystrophy with early one is Bardet (described in 1920) with macular involvement. Full-field rod and features of retinal dystrophy or pigmentary cone ERG are the investigation of choice retinopathy, truncal obesity and and may be abnormal as early as 14 months dysmorphic extremities (Syndactyly, of age. Visual acuity, dark adaptation, and brachydactyly, or polydactyly), and other is retinal vessels are normal in infancy; disk Biedl (described in 1922) with mental pallor and attenuated retinal vessels retardation and hypogonadism or develop with age. Polydactyly is postaxial hypogenitalism. and may involve any or all extremities. The incidence has been placed at 1 in Syndactyly or brachydactyly is present in 160,000 in Switzerland. Farag and Teebi3 14.4% of patients. Hypogenitalism is have found that Bardet- Biedl is more present in roughly half of patients over the prevalent in Arab population of Kuwait and age of 156. Vaginal atresia, urogenital among the Bedouin, where the estimated sinus, uterine and ovarian hypoplasia and minimum prevalence was 1 in 13,500. congenital hydrometrocolpos have been Twelve genes are known to be associated described in female BBS7. Infertility is with BBS: BBS1, BBS2, ARL6/BBS3, particularly prominent in male BBS. BBS4, BBS5, MKKS/BBS6, BBS7, Important nonocular manifestations are TTC8/BBS8, B1/BBS9, BBS10, and renal abnormalities, hirschprung‘s disease, 175 International Journal of Current Research and Review www.ijcrr.com Vol. 03 issue 12 December 2011 hypertension, and diabetes mellitus. manuscript and also of the patient for his Diagnosis of the BBS is based on the co-operation and consent. child‘s symptoms. They may be present at birth or may become noticeable as child REFERENCES grows. Individuals with Bardet- Biedl 1. Bardet, G: Surun syndrome d‘obesite syndrome need visual aids and educational infantile avec polydactllie et retinite programs for the visually impaired. Diet, pigment ire, thesis, Paris, 1920, exercise, and behavioural therapies are university of Paris. used to manage obesity; 2. Biedl, A: Em Geschwisterpaar mit hypercholesterolemia and diabetes mellitus adiposegenitaler Dystrophie, dtsch Med are treated as in the general population. Wochenschr 48: 1630, 1922. Surgery to remove accessory digits 3. Farag, TI, Teebi, AS: bardet- Biedl and prevents functional interference and poor Laurence- Moon syndromes in a mixed fitting of foot wear. Early intervention and Arab population, Clin Genet 33: 78-82, special education address cognitive 1988. disability; speech delay or impairment is 4. Prosperi, L. cordella, M. Bernasconi, S: addressed with speech therapy. Electroretinography and diagnosis of the Hydrocolpos, vaginal atresia, or, Laurence- moon- bardet- Biedl hypospadias may be surgically corrected. syndrome in childhood. J Paediatric Hormone replacement therapy is used to Ophthalmol 14:305-308, 1977. correct hypogonadism. Renal anomalies 5. Schacht, AP, Maumenee, IH; The and hypertension are treated as in the Bardet- Biedl syndrome and related general population; renal transplantation disorders, Arch Ophthalmol 100: 285- has been successful. Surveillance includes 288, 1982. regular ophthalmologic evaluation, annual 6. Klein, D, ammann, F: The syndrome of blood pressure measurement, monitoring of Laurence-Moon-Bardet- Biedl and renal function, and regular testing for allied diseases in Switzerland: clinical, diabetes mellitus and lipid profiling. genetic and epidemiological studies, J The purpose of reporting this case is to add Neural Sci 9:479-513, 1969. small ear, hemimandibular hypoplesia & 7. Stoler, JM, Herrin, JT, Holmes, LB: pigeon shaped chest as a new atypical Genital abnormalities in females with features of BBS Bardet-Biedl syndrome, Am J Med Genet 55: 276-278, 1995. ACKNOWLEDGEMENT Authors acknowledge the immense help received from the scholars whose articles are cited and included in references of this 176 International Journal of Current Research and Review www.ijcrr.com Vol. 03 issue 12 December 2011 .
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