Dr.Venkatesh Kumar, Dr.Praveena , Dr.C.Jayakumar , AIMS, Kochi.
Three months old male presented with increaesed frequency of stools ,inadequate weight gain and generalized peeling of skin from Day 56 of life
Initially treated as diaper rash which extended to perianal , bilateral buttocks and bilateral lower limbs , trunk , upper limb and finally face.
History of hair discolouration ,irritability and decreased activity and swelling present over left lower limb upto ankle ,passage of loose watery stools – sometimes greenish,pasty in consistency was also noted.
Antenatal history revealed Gestational diabetes and was on OHA for the same.He was born Term/ AGA / Birth weight of 3.09 kg . Postnatal history revealed Neonatal jaundice and was given phototherapy for three days. He is developmentally normal and two and half months vaccination was pending.
On examination, Child was afebrile , irritable with other vitals stable. Mild pedal edema present till the level of left ankle .
Auxology revealed Grade- 2 Protein energy malnutrition, Grade- 1 wasting and Grade -1 stunting.
Head to foot examination revealed Generalized exfoliative rash present all over body, face, perianal region, perianal rash present , Sparse hair with greying of hair and alopecia over occipital area present . Abdominal examination revealed hepatomegaly.
Differential diagnosis :
1.Acrodermatitis eneteropathica
2. Atopic Dermatitis.
3. Immunodeficiency disorders.
4. Inflammatory Bowel disease.
5. Protein losing eneteropathy.
6. Other Micro-nutrient deficiency.
Investigations:
Hemogram: TC- 17,250, N/L- 55/37%, Hb- 7.2, Plt-3.36 lakh.
CRP- 12.58 mg/L.
LFT: SGOT- 135.8 IU/L, SGPT- 71.3 IU/L, ALP- 246 IU/L, Total protein- 3.6 mg/dl, S.Albumin- 1.8 gm/dl, S.Globulin- 1.89 gm/dl.
RFT,Serum electrolytes done were within normal limits.
TFT: Free T3 : 1.75 pg/ml , T4 : 1.42 ng/dl , TSH : 9.04 uIU/ml
GGT : 648.0 U/L.
URE: Normal.
Peripheral blood smear: Normocytic normochromic anemia with leucocytosis and thrombocytopenia.
Serum Zinc : 50 mcg/dL (54-151 mcg/dl).
• USG Abdomen: Mild fatty infiltration of liver,Trace perihepatic free fluid.
Stool OB : positive , Stool pH: low (5) , Stool for reducing substances: Trace positive.
Immunoglobulin profile(IgG,A,M,E): Normal.
T/B/NK cell flow cytometry : Normal.
OGDscopy + Sigmoidoscopy were done which showed duodenitis, gastritis and diffuse colitis, Tissue biopsy reports awaited.
Impression: Acrodermatitis enteropathica (Zinc deficiency )
Discussion:
Acrodermatitis enteropathica is a recessively inherited partial defect in intestinal zinc absorption. It is the result of mutations in the SLC39A4 gene, which encodes the ZIP4 protein, resulting in a partial block of intestinal zinc absorption. Global incidence rate of acrodermatitis enteropathica has been estimated at 1 per 500,000 births.
Affected infants develop an erythematous and vesiculobullous dermatitis, alopecia, diarrhea, ophthalmic disorders (including corneal scarring, cataract formation, retinal degeneration, and optic atrophy, severe growth retardation, delayed sexual maturation, neuropsychiatric manifestations, and frequent infections . The syndrome is associated with severe zinc depletion and is fatal without treatment. It responds to oral supplementation with pharmacologic doses of zinc, which are required for life.
Clinical features:
Mild zinc deficiency is associated with anorexia and growth impairment, depressed immunity, impaired taste and smell, onset of night blindness (related to interaction with vitamin A homeostasis), and, sometimes, a mild psoriasiform dermatitis.
Severe zinc deficiency is characterized dermatitis (typically erythematous, scaly, vesiculobullous, or pustular lesions, distributed initially in the perioral and perianal areas or on extensor surfaces of the limbs), severely depressed immune function, frequent infections, diarrhea, and alopecia .
Diagnosis:
Serum/plasma zinc concentrations – This is the most useful laboratory test for zinc deficiency, despite limited sensitivity and specificity. Low serum zinc has been defined as <60 micrograms/dL (<9.2 micromol/L) . However, for morning samples, it may be appropriate to use a higher threshold of 65 or 70 micrograms/dL (9.9 or 10.7 micromol/L) .
In patients with hypoalbuminemia, measured zinc levels are typically decreased because most serum zinc is bound to albumin. However, in clinical practice, we do not attempt to correct measured zinc levels for hypoalbuminemia. Instead, we treat patients with low serum zinc levels empirically with zinc supplements regardless of albumin levels.
●Alkaline phosphatase – Depressed serum alkaline phosphatase activity for age has been proposed to provide supportive evidence for zinc deficiency. However, this test does not reliably reflect zinc intake or zinc status and is not considered to be a sensitive biomarker.
Treatment: For acrodermatitis enteropathica, higher replacement doses are recommended: approximately 3 mg elemental zinc/kg/day (13.2 mg/kg/day of zinc sulfate or 10.1 mg/kg/day of zinc acetate) . Measuring zinc levels every three to six months and adjusting the dose up or down as needed; serum copper should also be monitored. Patients with acrodermatitis enteropathica require these high doses to overcome the defect in intestinal zinc absorption. Toxicity from zinc supplementation is rare, although long-term administration of high doses (>50 mg zinc/day) may lead to copper deficiency, reduced immune function, and lower high-density lipoprotein cholesterol levels. High intakes are also associated with nausea, gastric distress, vomiting, and loss of appetite
