Dr.Ch Venkat Kumar Raju,Dr Suma Balan , Dr C.Jayakumar
Department of Pediatric and pediatric rheumatology
Amrita institute of medical sciences, kochi
Four year-old female child from Maldives, with a background history of prematurity, right renal agenesis, thalassemia carrier, in view of facial dysmorphism, ptosis and Molar tooth sign in MRI with cerebellar hypoplasia was diagnosed as Joubert Syndrome presented with complaints of gum bleed and lower limb pain for 1 month.
Was initially admitted in a local hospital, was given pRBC in view of low HB. Coagulation profile was normal. In view of Intense pain in knees she was referred here for further evaluation.
Diet history- has prolonged mealtime, occasional vomiting post food intake and has delayed swallow initiation.
Very picky eater.
On examination, child is very irritable
Had webbing of the neck , frontal bossing , telepathy’s , retrognathia and microcephaly
Few perifollicular hemorrhages in both legs and forearm, B/L ptosis, periorbital hyperpigmentation, gum hypertrophy with poorly developed teeth
Systemic examination showed hypotonia, brisk reflexes with ptosis, No organomegaly or joint selling, clear chest.
At this point our D/D were
Scurvy
Malignancy
Gingivitis
Initial investigation showed neutrophilic counts with 6k, with a HB of 7 (Indices were not suggestive of iron deficiency) and a platelet of 3.3L
In clinical suspicion of scurvy, x ray knee was done
X ray knee findings from above to below-
Scorbutic zone on both sides (Trummerfleds zone)
Dense zone of calcification on both sides (White line of Frankel)
Ring epiphysis (Wimbergers sign)
And pelkan spurs.
She was started on Oral Vitamin C and Naproxen for Pain.
Scurvy-
Scurvy is often misdiagnosed as infectious or Juvenile idiopathic arthritis, osteomyelitis, Child abuse, malignancy or acrodynia.
Early irritability and bone pain are sometimes attributed to nonspecific pains
Copper deficiency results in a radiographic picture similar to that of scurvy.
HSP and TTP or leukemias sometimes suspected in children presented with hemorrhagic manifestations
Treatment-
Vitamin C supplements of 100-200 mg/day orally or parenterally ensure rapid and complete cure
Clinical improvements is seen within 1 week in most cases, but treatment should be continued for up to 3 months for complete recovery
Prevention
Breastfeeding protects against vitamin C deficiency throughout infancy. In children consuming milk formula, fortification with vitamin C must be ensured. Children consuming heat-treated milk or plant-based beverages (e.g., almond milk, soy milk) should consume adequate vitamin C–rich foods in infancy. Dietary or medicinal supplements are required in children on restrictive diets deficient in vitamin C, severely malnourished children, and those with chronic debilitating conditions (e.g., malignancies, neurologic disorders). Providing antenatal supplements of vitamin C to smok- ing mothers may mitigate some of the harmful effects of smoking on fetal and infant lung development and function.
VITAMIN C TOXICITY
Daily intake of <2 g of vitamin C is generally without adverse effects in adults. Larger doses can cause gastrointestinal problems, such as abdominal pain and osmotic diarrhea. Hemolysis has rarely been reported after high doses of ascorbic acid. Megadoses of vitamin C should be avoided in patients with a history of urolithiasis or condi- tions related to excessive iron accumulation, such as thalassemia and hemochromatosis. Data are sparse regarding vitamin C toxicity in children. The following values for tolerable upper intake levels are extrapolated from data for adults based on body weight differ- ences: ages 1-3 years, 400 mg; 4-8 years, 650 mg; 9-13 years, 1,200 mg; and 14-18 years, 1,800 mg.