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 Table of Contents  
Year : 2016  |  Volume : 3  |  Issue : 2  |  Page : 128-130

Bardet–Biedl syndrome with nonalcoholic steatohepatitis, hypertension, and hypothyroidism

Department of Medicine, Government Medical College, Haldwani, Uttarakhand, India

Date of Web Publication29-Feb-2016

Correspondence Address:
Yatendra Singh
Room No 32, Sr Hostel Government Medical College, Haldwani - 263 139, Uttarakhand
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2348-3334.177635

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Bardet–Biedl syndrome (BBS) is a rare, genetically heterogeneous, autosomal recessive inherited disorder with wide variability in expression. The accepted major criteria for diagnosis include retinal dystrophy, obesity, polydactyly, male hypogonadism, mental retardation, and renal dysfunction. We are presenting a 20-year-old male patient exhibiting characteristic features of BBS in association with nonalcoholic steatohepatitis, hypertension, and hypothyroidism, which is uncommon. Literature is also reviewed in brief.

Keywords: Bardet–Biedl syndrome, hypertension, hypothyroidism, nonalcoholic steatohepatitis, obesity, polydactyly, retinitis pigmentosa

How to cite this article:
Singh Y, Singh M, Saxena SR, Prakash S, Joshi A. Bardet–Biedl syndrome with nonalcoholic steatohepatitis, hypertension, and hypothyroidism. CHRISMED J Health Res 2016;3:128-30

How to cite this URL:
Singh Y, Singh M, Saxena SR, Prakash S, Joshi A. Bardet–Biedl syndrome with nonalcoholic steatohepatitis, hypertension, and hypothyroidism. CHRISMED J Health Res [serial online] 2016 [cited 2022 Nov 27];3:128-30. Available from: https://www.cjhr.org/text.asp?2016/3/2/128/177635

  Introduction Top

Bardet–Biedl syndrome (BBS [MIM 209900]) is a rare, autosomal recessive disorder. BBS was first described by Bardet and Biedl in 1920.[1] Principal manifestations are rod-cone dystrophy (retinitis pigmentosa), postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. Other features not always present include hepatic fibrosis, diabetes mellitus, neurological involvement, speech and language deficits, behavioral traits, facial dysmorphism, dental anomalies, and developmental delay.[2],[3] Frequency of this syndrome is estimated to be 1:160,000.[4] Less than 15 cases have been reported from India.[5] We report here a typical case of BBS in a 20-year-old boy with additional findings of nonalcoholic steatohepatitis (NASH), hypertension, and hypothyroidism. We also discussed a brief review of the diagnosis and management of this rare syndrome.

  Case Report Top

A 20-year-old male patient attended Medicine Outpatient Department of our hospital with complaints of obesity, poor genital development, decrease vision, and extra fingers in both limbs. His parents enrolled him in school, but he is in fifth standard for last 3 years because of poor learning capability. He learned to walk at 3 years. He learned to speak at 4 years and had difficulty in finding words. He is the fourth child from a nonconsanguineous marriage. Patient presently has three siblings, one younger brother and two elder sisters who are phenotypically normal. However, there is a history of one sister died at 23 years due to some renal disease, who had similar phenotypic characters. On examination, his vitals were stable except blood pressure, i.e., 150/90 mm of Hg. Abdominal examination showed soft to firm hepatomegaly, five fingers below costal margin. All other systems were normal. He was found to be obese with body mass index of 30.2 [Figure 1]a. His waist circumference was 98.5 cm. Other findings were polydactyly of all four limbs, micropenis with undescended testis, absent pubic/axillary hairs, and high arched palate [Figure 1]b and [Figure 1]c. Ophthalmological examination revealed visual acuity of 1/60 (right) and 2/60 (left). Fundus showed a waxy pale disc with marked attenuation of arterioles and pigmented clumps at the periphery suggestive of atypical retinitis pigmentosa [Figure 2]a and [Figure 2]b. His intelligence quotient was 37 (Wechsler Adult Intelligence Scale). There was no clinical evidence of spastic paraparesis. Fasting blood glucose was 65 mg%. Liver function tests showed elevated enzymes with serum glutamic oxaloacetic transaminase of 77 IU and serum glutamic pyruvic transaminase of 150 IU. Viral markers hepatitis B and C were negative. Thyroid function test was abnormal, i.e. T3 - 1 nmol/L (1.2–2.1 nmol/L), T4 - 50 nmol/L (70–151 nmol/L), and thyroid stimulating hormone - 12.1 mIU/L (0.34–4.25 mIU/L). Ultrasound scan of the abdomen showed fatty (diffuse increase echogenicity) enlarged liver (15.6 cm) with normal kidneys. Ultrasound also revealed bilateral small hypoechoic oval structure in inguinal canal suggestive of undescended testis. Renal color Doppler was normal. Laboratory examination including complete blood count, urinalysis, brain imaging, renal function tests, urine examination, and lipid profile test were normal. A diagnosis of BBS was made with having central obesity, postaxial polydactyly, mental retardation, retinitis pigmentosa and hypogonadism. Additional finding in this case was NASH as diagnosed by enlarged fatty liver on sonography with elevated liver enzymes, hypertension, and hypothyroidism. He was advised angiotensin-converting-enzyme inhibitor inhibitors (ramipril 5 mg per day), levothyroxine 50 µg per day, and ursodeoxycholic acid 300 mg per day. Besides this, he was prescribed glasses, advised for fat and refined carbohydrate-restricted diet, exercise, and asked for follow-up after 3–6 months
Figure 1: (a) Obese child with (b) hypogonadism and (c) postaxial polydactyly of all four limbs

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Figure 2: (a and b) Fundus of left eye showing retinitis pigmentosa

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  Discussion Top

The patient discussed above is a classic case of BBS. This syndrome was described by Bardet and Biedl in 1920. It was later erroneously coupled with another disorder described by Laurence and Moon and was consequently referred to Laurence–Moon–Biedl syndrome. BBS is distinguished from the much rarer Laurence–Moon syndrome, in which retinal pigmentary degeneration, mental retardation, and hypogonadism occur in conjunction with progressive spastic paraparesis and distal muscle weakness but without polydactyly.[6],[7] In 1999, modified diagnostic criteria were defined after a study conducted in England in 109 BBS patients.[3] Patients who had 4 primary characteristics or 3 primary and 2 secondary criteria were identified as BBS [Table 1]. Our case had five primary and three secondary diagnostic criteria. NASH, hypertension, and hypothyroidism were additional features that occurs in 18.5%, 8%, and 3% patients, respectively.[3],[8] Various form of hepatic involvement are described in literature. Hepatic involvement may occur as perilobular fibrosis, periportal fibrosis with small bile ducts, bile duct proliferation with cystic dilatation, biliary cirrhosis, portal hypertension, and congenital cystic dilations of both the intrahepatic and extrahepatic biliary.[9] Obesity is reported to occur in 72–92% of affected individuals.[10] Hypertension and hyperlipidemia are common in BBS, occurring in more than 30% and 60% of affected individuals, respectively.[11] NASH in these patient might be correlated with obesity and hyperlipidemia. Although detailed literature is lacking regarding these three additional features described in this case. The syndrome is transmitted as an autosomal recessive trait. Recent advances in genetics have enabled investigators to define syndromes by specific mutations. Eleven genes are known to be associated with this syndrome: BBS1, BBS2, ARL6/BBS3, BBS4, BBS5, MKKS/BBS6, BBS7, TTC8/BBS8, B1/BBS9, BBS10, and TRIM32/BBS11.[12]
Table 1: Modified diagnostic criteria and clinical manifestation in case

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Obesity, mainly of the trunk, is one of the most common features in BBS. It develops in early childhood and aggravated with age. Ocular manifestations are also common and become apparent between the ages of 4 and 10 years. Hypogonadism in affected males is common. Most affected men have small external genitalia with primary testicular failure. Postaxial polydactyly is one of the earliest and most common manifestations of BBS. Renal failure is the major cause of morbidity and early mortality in BBS. A wide range of renal abnormalities has been described (chronic renal failure, parenchymal cysts, calyceal clubbing, fetal lobulation, scarring, unilateral agenesis, dysplastic kidneys, renal calculi, and vesicoureteric reflux). Despite the presence of underlying renal malformations, only a small number of patients were symptomatic at the time of the survey. Mild to moderate mental retardation and learning difficulties are additional features of this syndrome.[2],[3]

BBS has an adverse prognosis and treatment depends on clinical features and organ involved. Their survival and quality of life depend on the severity of clinical features, as well as on the quality of the medical care they receive. The condition is supposed to be rare, but this may be due to failure to diagnose incomplete or partial cases. Physicians, pediatricians, and ophthalmologists should be aware of this syndrome because of two reasons. First, the syndrome has got grave prognosis and second, patient seek first consultation in these specialties, by whom they should be guided to appropriate super specialties.

  Conclusion Top

This case describes some common features of Laurence–Moon–Bardet–Biedl syndrome including five cardinal features, i.e., retinitis pigmentosa, postaxial polydactyly, central obesity, mental retardation, and hypogonadism. In addition, patient had three uncommon features (NASH, hypertension, and hypothyroidism) which are less frequently reported in other cases.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/ their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Bardet G. On Infantile obesity on a syndrome with polydactyly and retinitis pigmentosa. France: Thesis, University of Paris; 1920.  Back to cited text no. 1
Green JS, Parfrey PS, Harnett JD, Farid NR, Cramer BC, Johnson G, et al. The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N Engl J Med 1989;321:1002-9.  Back to cited text no. 2
Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. New criteria for improved diagnosis of Bardet-Biedl syndrome: Results of a population survey. J Med Genet 1999;36:437-46.  Back to cited text no. 3
Klein D, Ammann F. The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland. Clinical, genetic and epidemiological studies. J Neurol Sci 1969;9:479-513.  Back to cited text no. 4
Hooda AK, Karan SC, Bishnoi JS, Nandwani A, Sinha T. Renal transplant in a child with Bardet-Biedl syndrome: A rare cause of end-stage renal disease. Indian J Nephrol 2009;19:112-4.  Back to cited text no. 5
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Laurence JZ, Moon RC. Four cases of “retinitis pigmentosa” occurring in the same family, and accompanied by general imperfections of development 1866. Obes Res 1995;3:400-3.  Back to cited text no. 6
Schachat AP, Maumenee IH. Bardet-Biedl syndrome and related disorders. Arch Ophthalmol 1982;100:285-8.  Back to cited text no. 7
Wanless IR, Lentz JS. Fatty liver hepatitis (steatohepatitis) and obesity: An autopsy study with analysis of risk factors. Hepatology 1990;12:1106-10.  Back to cited text no. 8
Baker K, Beales PL. Making sense of cilia in disease: The human ciliopathies. Am J Med Genet C Semin Med Genet 2009;151C:281-95.  Back to cited text no. 9
Forsythe E, Beales PL. Bardet-Biedl syndrome. Eur J Hum Genet 2013;21:8-13.  Back to cited text no. 10
Imhoff O, Marion V, Stoetzel C, Durand M, Holder M, Sigaudy S, et al. Bardet-Biedl syndrome: A study of the renal and cardiovascular phenotypes in a French cohort. Clin J Am Soc Nephrol 2011;6:22-9.  Back to cited text no. 11
Woods MO, Young TL, Parfrey PS, Hefferton D, Green JS, Davidson WS. Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: Evidence for a fifth locus. Genomics 1999;55:2-9.  Back to cited text no. 12


  [Figure 1], [Figure 2]

  [Table 1]

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