Patients of Bardet-Biedl syndrome
- Patient Serial No - 1
- Patient Serial No - 2
- Patient Serial No - 3
Age:
7
Sex:
female
Location:
sylhet
Clinical Features:
Cone-rod dystrophy. ... Central (truncal) obesity develops in the first year of life; Cognitive impairment. Hypogonadism and genitourinary malformations. ... Kidney disease.
Biochemical Data:
She had polydactyly (6 toes) on both feet. Her weight was 38 kg (weight-for-age >97th percentile), height was 121 cm (height-for-age 50th percentile) and body mass index (BMI) was 26 kg/m2 (>95th percentile)
treatement and management:
Laboratory investigations including complete blood count (CBC), random blood sugar (RBS), alanine transaminase (ALT/SGPT), serum creatinin, lipid profile, free thyroxine (FT4), thyroid stimulating hormone (TSH), follicle stimulating hormone (FSH), luteinizing hormone (LH), urine routine and microscopic examination (RME) revealed normal findings. No abnormalities were seen on chest x-ray, electrocardiogram (EKG) or echocardiogram. Hepatomegaly with fatty changes in liver was detected .
Remarks:
Laurence-Moon-Bardet-Biedl syndrome (LMBBS) varies in its manifestation in different patients.Apart from the primary features of obesity, post-axial polydactyly, renal abnormalities, mental retardation, pigmentary retinopathy, and hypogenitalism, other secondary manifestations exist. These secondary characteristics include cardiac anomalies, neurological problems, nephrogenic diabetes insipidus, diabetes mellitus, dental anomalies, hypertension, speech disorders, behavioral problems, brachydactyly/syndactyly/clinodactyly, anosmia, lipid disorders, hepatic abnormalities and skin disorders
Age:
13
Sex:
female
Location:
dhaka
Clinical Features:
1. Rod-cone Dystrophy 2. Speech disorder/Delay 3. Obesity 4. Strabismus/cataracts/astigmatism 5. Polydactyly 6. Brachydactyly/ syndactyly 7. Learning Disabilities 8. Developmental delay 9. Hypogonadism in males 10. Nephrogenic diabetes insipidus 11. Renal Anomalies 12. Ataxia/poor coordination/imbalance 13. Mild spasticity 14. Dental crowding/hypodontia/small roots 15. Left ventricular hypertrophy/congenital heart disease 16. Hepatic fibrosis
Biochemical Data:
complete blood count, OGTT, SGPT, S.Creatinine, S.TSH, FT4, S.prolactin, urinalysis, ultrasonography of whole abdomen were found to be normal except F.lipid profile- S.Cholesterol 224 mg/dl, S.TG- 236 mg/dl, HDL 36 mg/dl and LDL 139 mg/dl
treatement and management:
According to symptoms
Remarks:
The disease is incurable, and therefore, persists as a chronic condition. However, timely symptomatic treatment ensures a good prognosis.
Age:
12
Sex:
male
Location:
dhaka
Clinical Features:
polydactyly or syndactyly, hypogonadism, impairmentof speech, delayed motor skill development, distinctivefacial appearance, behavioural abnormality, poor cooridination, dental abnormalities and partial or complete loss of sense of smell
Biochemical Data:
s primary hypothyroidism (TSH 8.09 uIU/ml, FT4 14.64 pmol/L), secondary hypogonadism(S. LH 0.08 mIU/ml, S. testosterone 0.36 ng/ml), and abdominal ultrasonography revealed fatty change in liver. Fasting lipid profile revealed high triglyceride level
treatement and management:
the patient was suggested exercise frequently and devised a food plan for losing weight. Levothyroxine 50 micrograms once daily and metformin 500 mg twice daily were the medications . After three months, ophthalmological follow-up was planned.
Remarks:
BBS has no known cure. The strategy is symptomatic treatment, which includes managing obesity, undergoing cosmetic surgery for gynecomastia, walking with a stick and the assistance of caregivers, and using a multidisciplinary approach from speech therapists, audiologists, orthopedic surgeons, and endocrinologists.