Title: Pediatric Primary Hypoparathyroidism: A Case Report

Authors: Kanika Chauhan, Aashutosh Sharma

 DOI: https://dx.doi.org/10.18535/jmscr/v8i7.06

Abstract

Introduction

Hypoparathyroidism in children is a rare endocrine disorder characterised by primarily neuropsychiatric signs and symptoms and is liable to misdiagnosis. The most common cause is iatrogenic. Patients are usually asymptomatic, few patients however have symptomatic hypocalcemia. Children may precipitate episodes of seizures and tetany during periods of stress such as a febrile illness and maybe mislabelled as having febrile seizures or epilepsy. Misdiagnosis rates of primary hyperparathyroidism are very high (29 %)1.

Case Report

We report a case of an 11 year female adolescent presented with history of tetany and abnormal body movements over the last one day along with undocumented fever and rash 4 days back. There was no past medical history for seizures, abnormal body movements, radiation or previous neck surgeries or any chronic illness. The patient had stable vitals at presentation however she had tetanic episodes and seizures during hospital stay and developed encephalopathy. Patient was showing trousseau’s and chvostek signs of hypocalcemia (figure 1).  Physical examination revealed average anthropometric measurements- lying on 50th centile. There were no dysmorphic features. Systemic examination was normal. Initial investigations had a normal blood picture with severe hypocalcemia with calcium level of 4.7 mg/dl and hyperphosphatemia 8.2 mg/dl and raised ALP 222 IU and normal magnesium levels. Renal functions were preserved. Qotc interval was prolonged on ECG. Vitamin d levels were normal. PTH levels were low (Table1).  Eye examination showed a hyperemic disc. Abdominal USG revealed no calcification sites. NCCT and MRI brain showed bilateral basal ganglia calcifications. Bilateral basal ganglia show calcification in the form of T2 hyperintensity. Calcifications were also seen in right caudate nucleus and bilateral frontal lobes and subcortical white matter. Other associations with thyroid, adrenals and ovaries were ruled out.

The child was started on iv calcium 1g per kg per day along with calcitriol 2mg per day. There was gradual improvement in calcium levels and patient's general condition. The patient was discharged at a calcium level of 6.9 mg per dl. Gradually calcium supplementation was done orally.

References

  1. Zhang TL, Wang CM. Misdiagnosis of idiopathic hypoparathyroidism with dominant neuropsychiatric manifestations: analysis of 12 cases. J Shandong Med 2000;40:52–3.
  1. Shoback D. Clinical practice: hypoparathyroidism. N Engl J Med 2008; 359:391-403.
  2. Bilezikian JP, Khan A, Potts JT Jr. Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment and challenges for future research. J Bone Min Res 2011;26:2317-37.
  3. Di Maio S, Soliman AT, De Sanctis V, Kattamis CC. Current treatment of hypoparathyroidism: Theory versus reality waiting guidelines for children and adolescents. Acta Biomed 2018 Mar 27;89(1):122-31.

Corresponding Author

Dr Aashutosh Sharma

M.D Pediatrics, ZH Dharamshala (H.P), India