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A case of a child with failure to thrive


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A case of a child with failure to thrive

  1. 1. DR.GAUTAM N. JAIN DNB,DCH (Bombay)Consultant Paediatrician & Neonatologist. Rajasthan Hospitals. Shahibaug.
  2. 2. CLINICAL PRESENTATION Manav 8 yr Mch Failure to thrive Diarrhoea since new born period.
  3. 3.  He is second child of the non-consanguineous parents. FTND(05-07-2003) with Bth Wt 2.8kg. First sib is normal. No significant ante-natal event.
  4. 4.  He was on top feed since birth because he did not suck initially. He lost almost 1 kg wt. during first mth of age for persistent diarrhea. Since then he has intermittent diarrhea till date. Motion is non-bloody, large bulky, foul smelling & non- greasy. Usually not been associated with vomiting and fever. It never happens in summer season when he is eating only Mango & Roti.
  5. 5.  There is no h/o polyurea and polydypsia. No h/o Jaundice in past. No h/o suggestive of cardiac ds. No h/o recurrent tonsillitis & Adenoids.
  6. 6. CAUSES OF FAILURE TO THRIVE Birth to 3 mth- perinatal infection,GER,IEM,Cystic fibrosis. 3 – 6 mth - HIV, GER,IEM,Milk protein intolerance,cystic fibrosis,RTA. 7 – 12 mth - Improper weaning, GER, RTA. 12 + mth - GER , Tuberculosis , chronic disease.
  7. 7. OLD DOCUMENTS He has been persistently hypoalbumenic. Tetany :- till date he has almost 2-3 documented episode of tetany which required hospitalization and treatment.
  8. 8.  He has been treated by antibiotics and other supportive treatment for diarrhea. He has been treated for iron deficiency anaemia.
  9. 9. WHERE AREWE ??
  10. 10. DIFFERENTIAL DIAGNOSIS Malabsorption with failure to thrive Coeliac disease.
  11. 11. Milk free diet , Wheat freediet & coconut oil as coocking oil is been tried unsuccessfully.
  12. 12. ON EXAMINATION Short statured. normal vital (T-n, HR 100/ min & BP 80/60 mm hg). Wt. 15 kg ( 24kg) , Hc 47 cm, Ht. 104.5 cm (126 cm). LS 54.5cm
  13. 13. Abnormal facial features Large forehead, synorphis, Hypertelorism, flat bridge of nose, low set ears with abnormal pinna, Epicanthic fold, high arch palate. Single palmer crease, clinodactyly. Oedematous dorsum of Rt. Hand & lt. foot. Scoliosis, café-au-lait spot He had bilateral pitting oedema.
  14. 14.  Systemic examination has been unremarkable except umbilical hernia.
  15. 15. Synopsis of the investigations ( 2007) Hb. 5.7 gm% , Retic ct. 2.27%, Hb. Electrophoresis – N. Iron studies suggestive of iron deficiency (Treated with iron and good response) (2012) Hb. 13.9gm%, Tc 8700 , N73, L14, Plt. Ct. 2,90,000.
  16. 16. Synopsis of the investigations 2003 2008 -12 Cal. 11.6 5.2 – 7.8 Phosphorus 6.9 4.6 Albumin 1.7 – 2 PTH - 234 185.
  17. 17. Synopsis of the investigations RBS 91 SGPT 46 -66 SGOT 41- 60 Sodium – 141, Potassium – 4.3, Chloride – 113. VBG – N Stool – Fat globules + ( Oct. 2003)
  18. 18. Searching for the cause Urine for metabolic screening was normal Urine for MPS screening was normal
  19. 19. Still no clue TFT – N UGI scopy – N ,. Intestinal Biopsy – N ,Tissue transglutaminase – N , Endomyseal antibody – N. Karyotyping – N.
  20. 20.  X-RAY Chest , USG Abdomen , 2-D Echo – N. X-ray Pelvis :- erosion of Gr. Trochanter of Lt. femur., Metaphyseal widening Subchondral sclerosis of both knee.& osteoporosis X-ray wrist :- swelling with fraying metaphyseal margin,swan neckdeformity of rt. Index,lt. rinf & little finger.
  21. 21. At last… Tandem Mass Spectroscopy :- Suggestive of Methyl malonic acidemia
  22. 22.  Our working diagnosis: ?? Methyl Malonic academia with chronic pancreatitis and malabsorption Points in favour:  Failureto thrive  Chronic pancreatitis Points against: No acidosis Dysmorphism.
  23. 23. Methyl malonic acidemia Methyl malonic acid is derived from propionic acid as part of the catabolic pathways of isoleucine, valine, threonin, methionine, cholesterol, and odd-chain fatty acids. Isoleucine, valine, threonin, methionone, cholesterole,and odd chain fatty acids ↓ Propionic acid → methyl malonic acid → Succinic acid ↑ methylmalonyl CoA racemase methylmalonyl CoA mutase ( coenzyme- adenosylcobalamin ) Defects in the intracellular metabolism of vit B12 ( cobalamin)
  24. 24.  Defficiency of either mutase or its coenzyme causes an accumulation of methylmalonic acid and its precursors in body fluids. Defficiency of racemase has not been confirmed. Methylmalonyl CoA mutase (50%) & Adenosylcobalamin (50%) / / mut° mut¯ ( no detectable enz.activity) ( residual enz. Activity)
  25. 25.  Defects in the intracellular metabolism of vit B12 – At least 7 different defects been identified designated as cbl A through G. A subset of children with defects of intracellular cobalamin metabolism may also have simultaneous homocystinuria. In addition, transient MMA can be detected in otherwise healthy infants.
  26. 26. CLINICAL PRESENTATION The mut° and mut¯ forms of MMA typically present during the newborn period and early infancy, respectively. CblA, cblB, cblC, and cblH forms of MMA typically present during early infancy. MMA forms CblD and cblF typically present during later infancy or childhood. The cblC form of MMA may present during childhood or adolescence.
  27. 27. HISTORY :- A history of poor feeding, vomiting, progressive lethargy, floppiness, and muscular hypotonia in a newborn who has been healthy for the first 1-2 weeks of life Is typical for methylmalonic academia (MMA) mut° or MMA mut-. Older infants or children with one of the other forms of MMA or mild mut- may present for the first time during an episode of decompensation with lethargy, seizures, and hypoglycemia.
  28. 28. SYMPTOMS Dehydration , failure to thrive. Lethargy, muscular hypotonia, floppiness Developmental delay Facial dysmorphism (eg, high forehead, broad nasal bridge, epicanthal folds, long smooth philtrum, triangular mouth) Skin lesions (eg, moniliasis) Occasional hepatomegaly Acute onset of choreoathetosis, dystonia, dysphagia, and dysarthria (potentially signs of a stroke) Reduced GFR
  29. 29. Laboratory Ketosis , acidosis Anaemia, neutropenia , thrombocytopenia Hyperglycinemia , hyperammonemia, hypoglycemia Presence of large quantities of methylmalonic acid in body fluids.
  30. 30. Diagnosis :- Measuring mutase activity and by performing complementation study in cultured fibroblast. Prenatal diagnosis can be done.
  31. 31. Treatment :- Acute attack :- Rehydration. Correction of acidosis Provision of adequate calories. Minimal amounts of protein ( 0.25 g /kg / 24hr). Antibiotics L-Carnitine. Treat Hyperammonemia. Large dose of Vit B12 ( 1-2 mg / 24 hr) instead of biotin.
  32. 32. Treatment :- Long term treatment :- Low-protein diet. L-Carnitine. Vit B12 Chronic alkali therapy for pt with low-grade chronic acidosis.
  33. 33. Prognosis :- depends upon type of enzyme deficiency. Pt. with mutase deff. worse prognosis..
  34. 34. THAN K YOU