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Case Study

S: 3 year old ,h/o food faddism,Intermittent dysphagia, preference to one food type, no failure to thrive, past h/o HRAD, Atopic tendencies.

O: NAD, S/O HRAD On chest, atopic dermatitis.

PLANN: SR IgE LEVELS, UPPER GI ENDOSCOPY and esophageal biopsy : > 15 eosinophils/hpf

CLINICAL DIAGNOSIS: EOSINOPHILIC ESOPHAGITIS.

S: Infant, Large bowel diarrhea, blood in stools, not responding to antibiotics.

O: No failure to thrive, Atopic tendencies, S/o : HRAD.

Plann: SR IgE LEVELS, Sigmoidoscopy and Sigmoid mucosal  biopsy

Clinical diagnosis: COW’S MILK PROTEIN ALLERGY.

S: 7 year old, H/O upper gi bleed .no failure to thrive  no significant h/o, no past h/o hepatitis, spleen just palpable, NAD.

O: spleen just palpable, OTHERWISE NAD.

PLANN: UPPER GI ENDOSCOPY, AND SOS ENDOSCOPIC VARICEAL LIGATION (2/3 SETTINGS)

Clinical diagnosis: Extra hepatic portal vein obstruction.

S: 6 year, h/o persistent vomiting since 3 months, projectile , failure to thrive.

A: Failure to thrive,s/e : NAD. USG ABD : NAD, CT ABD: NAD, Tubercular profile : neg .metabolic w/u : neg, Urine  r/m : neg, No cns issue.

PLANN: UPPER GI ENDOSCOPY .

CLINICAL DIAGNOSIS: Foreign body on esophageal web which was subsequently dilated.

S: Accidental ingestion of corrosive 6 months back with persistent dysphagia.

A: Failure to thrive with no other clinical signs.

Plan: UPPER GI ENDOSCOPY

S: 4.5 month,  H/O yellow urine /eyes and clay color stool, abdominal distension , pruritus++

O: Icterus, Hepatomegaly ,pruritus MARK since 15 days of life .

Plann: LFT WITH GGT WITH PT , INR and  LIVER BIOPSY.

S: 6 Month old baby with abdominal distension and doll like facies with multifocal seizures.

A: HEPATOMEGALY, NAD.

Plan: sr uric acid: NORMAL, lipid profile: NORMAL, LFT: NORNAL , PT /INR: NORMAL.

LIVER BIOPSY :

  • FATTY CHANGE:MACROVESICULAR.
  • PERIPORTAL FIBROSIS.
  • NO E/O GSD/GAUCHER/NPD/LSD.

Clinical diagnosis:  FATTY ACID OXIDATION DEFECT / MITOCHONDRIAL CYTOPATHY.

MORE DETAILS: MDSG , metabolic disease study group of India. MDSG registry, Pedgihep Clinics,Unit of Pediatric gastroenterology & Hepatology, opdno 21, Care hospital, Ramdaspeth Nagpur. Email: pedgihep@yahoo.com, www.pedgihep.jigsy.com

SIMILAR PRESENTATIONS OTHER MEATBOLIC DISEASES:

S: 2 Year old child with lower GI bleed .Blood mixed in stools.

A: NAD, USG ABD : NAD., STOOL R/M: NO PUS CELL , OCCULT BLOOD ++

Plan: COLONOSCOPY.

S: H/O FOREIGN BODY INGESTION ACCIDENTAL.

S: h/o irritability, persistent paleness despite Fe supplement in appropriate form , appropriate dosages

O: pallor+++,Faliure to thrive

A: refractory Fe deficiency anaemia.

PLAN: 1. SR FERRITIN : LOW, SR CA: LOW, Sr IgA : N, Sr IgATTG : RAISED.

Suggested: UPPER GI ENDOSCOPY AND DUODENAL BIOPSY

PROBABALE DIAGNOSIS: CELIAC DISEASE

PEDGIHEP EDUCATION LEAFLET UPDATES: PEDGIHEP REGISTRY DATA: MAHARASHTRA.

  1. In cause of abdominal pain in children is antral gastritis predominates over duodenitis.
  2. Defecation dyssynergia is the most common cause of constipation.
  3. About 27 % of suspected duodenal malabsorption syndromes are celiac in etio-pathogenesis.
  4. Case detection rate of metabolic liver disease as per PEDGIHEP metabolic disease registry :54%
  5. Wilson disease is one of the most common cause of treatable of metabolic liver disease.
  6. 64 % of metabolic liver disease present in neonatal age group as neonatal hepatitis.
  7. Approx 10%ofpaucity of bile ducts/ neonatal sclerosing cholangitis have presentation as biliary atresia which have no role of kasai portoenterostomy.
  8. Coin is the most commonly ingested foreign body. Upper 1/3 rd of esophagus is the most common site of impaction. All foreign bodies in esophagus, discs,magnets, sharps, > 2.5cm,>6 cm in length needs to be removed.
  9. Post TOF surgeries > corrosive ingestion are the most common causes of esophageal stricture.
  10. EHPVO (portal cavernoma) is the most common cause of upper gi bleed in children.
  11. Metabolic liver disease is the most common cause of chronic liver disease in children.
  12. Idiopathic followed by Hepatitis A are most common cause of acute liver failure.
  13. Neonatal haemochromatosis /Tyrosinemia :most common cause of neonatal acute liver failure.
  14. Infective and allergic entero-colitis: most common colon issues in children.
  15. Crohn’s colitis is more common in children.Treatment and monitoring of Ped IBD is different.
  16. Cholelithiasis followed by choledochal cyst is most common issue in biliary system disorders.
  17. Chronic pancreatitis is more common than acute pancreatitis in children.
  18. Peritoneal and mesenteric abdominal LN are most common presentation of abdominal T.B.
  19. Food faddism can be a presenting symptom for Eosinophilic esophagitis.
  20. Refractory fe deficiency anemia with FTT is one of common ppt of Celiac disease.
  21. Liver enzymes can be normal in chronic liver disease and acute liver failure. Percentile charts needs to be followed.

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