Vomiting, Weakness, and Skin Discoloration in a 10Year Old Child

Abstract

CASE PRESENTATIONA 10 year old Pakistanian boy presented to my OPD pediatric clinic with complaints of protracted vomiting and weakness , for the last few days and that his weakness had progressively worsened to the point that he was not able to bear weight on the day of presentation. The emesis was no bilious and none bloody and was associated with vague, diffuse abdominal pain. His mother reported no fever, diarrhea, travel or exposures. No medication had been given for his symptoms.Medical historyThe patient’s mother described him as an otherwise healthy boy, with normal birth history and no medical problems in the past. The mother reported that the patient’s visual acuity started deterioration before one year for that reason she consult ophthalmologist and prescribed glasses for his visual impairment.The ophthalmologist showed pigmentary retinopathy (retinitis pigmentosa) and retinal flat with hyper pigmented geographic macular lesion, lens clear, squint with refractory error showed in his both eyes. And diagnosed as (Non accommodative Esotropic)Physical Examination:Vital signs: Afebril, heart rates from 94- to 113 beats per minute--Blood pressure,from 91/48- to 80/40 mmHg,-respiratory rates 20-30 breathe per minute-oxygen saturation% =100%.-weight 23.7 kg BMI 23General: Thin, weak, and dry tongue, alert and awake but listlessHead, eyes, ears, nose, and throat, normocephalic;Squint and pupils equal& reactive at 3 mm, mucus membranes dry and dark Neck: supple with no adenopathy; no signs of meningismus.Zulekha Hospital /Dubai UAE.Cardiovascular: tachycardia, regular rhythm, no murmurs, rubs, or gallops.Lungs: lungs clear to auscultation bilaterallyAbdomen: soft & flat with diffuse tenderness no rebound or guarding, no organomegaly, masses, or herniasExtremities: thin but with nail dystrophic changes and bluish discoloration no joints swelling.Skin: tanned skin, no rash, bruises, purpura, or petechieCapillary refill delayed at> 3 sec.Neurological examination: Glasgow coma scale score=15, generalized weakness but with normal muscle strength, tone, sensation and coordinationManagement-the child was admitted in the hospital -Intravenous access was obtained and fluid resuscitation was started with normal saline boluses 20ml/kg .and initial laboratory workup included- Venous blood gas analysis, complete blood count CBC, c-reactive protein-CRP,-ESR,-Peripheral smear,-metabolic paneland tissue transglutaminase, glygated haemoglobin (HBA1c),-Hormonal assays: 1-thyriod Function tests 2-parathyroid hormone 3- 9 am cortisol 4- ACTH 5-Aldosteron 6- rennin 7- 17 hydroxyprogesteronLaboratory and radiographic studiesVenous blood gas pH 7.33 PCO2 40mmHg -CBC, WBC : 12 000 Cells/ mm3Hb, 16/dl, Heamatocrit 48%, Platelets 401000 cell/ml,differential counts (59% neutrphils, 32% lymphocyte, 8% monocytes, 0% eosinophils).coagulation normal.Hormonal assays: thyroid function test and 17 hydroxyprogesteron 0.06 ng/mL within normal andparathyroid hormone 5ng/ml (10-65ng/L) and 9 am cortisol 1.5ug/dl (4.3-22.4 ug/dl), aldosteron <10 ng/L (40-310 ng/L) were low and ACTH 19.5pg/ml (<10pg/ml), and plasma renin 4.9 ng/mL/hr (1.31-3.95) were high.