A 7 years old boy with recurrent hypocalcemic convulsions and fever

Dr  Ira Shah

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A 7 years old boy with recurrent hypocalcemic convulsions and fever.

Dr Ira Shah.

Medical Sciences Department, Pediatric Oncall, Mumbai, India.

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Clinical Problem
A 7 years old male child born of non consanguineous marriage presented with continuous fever and dry cough since 1 month and maculopapular rash starting from the chest and spreading centrifugally associated with desquamation since 25 days. There was no other significant history. He had generalized tonic clonic convulsions 5-6 times since last 1 year for which he was on Phenobarbitone. All the convulsions were early in the morning and were diagnosed as hypocalcemic convulsions. On examination, he was emaciated with a weight of 15.5 kg (< 5th centile) and height of 114.5 cm (50th centile). His skin was dry and scaly and subcutaneous fat was lost. Oral candidiasis was present. On systemic examination, he had generalized lymphadenopathy, proximal muscle weakness with hypotonia and cardiomegaly.

His investigations revealed:
· CBC = Neutrophilia with thrombocytosis [Hemoglobin = 11.4 gm/dl, WBC = 22,400, Polymorphs = 89%, Lymphocytes = 8%, Platelets = 11,32,000 cells/cumm], ESR = 71 mm at end of 1 hour.
· Peripheral smear = Increased platelets with atypical lymphocytes. Monocytes were seen. RBC morphology was normal.
· Blood culture = negative
· S. calcium = 7 mg/dl (low), S. Parathyroid hormone = 10.9 pg/ml.
· Renal function tests, Liver function tests, S. electrolytes, RBS = Normal
· HIV ELISA = negative.
· Oral swab = Candida grown.
· S. immunoglobulins = Low (S. IgG = < 200 mg/dl, S. IgA = < 20 mg/dl, S. IgM = 40 mg/dl).
· CD4 count = 2788 cells/cumm (68%), CD4: CD8 ratio = 2.61.
· ANA, ds DNA = negative
· C-ANCA = weakly positive
· USG Abdomen = Mild hepatomegaly
· 2 D Echo = Thin rim of pericardial effusion with internal echoes present.
· X-Ray chest = Normal.

In view of hypogammaglobulinemia, he was given IV immunoglobulin (400 mg/kg) following which his fever subsided and he had a weight gain of 4 kg.

Question: - What is the diagnosis?

Discussion
Specialist answers: The abnormal findings in this child are
- Thrombocytosis
- Hypogammaglobulinemia.
- Inappropriate levels of parathyroid hormone levels inspite of hypocalcemia.

This suggests that the child has immune deficiency, primary hypoparathyroidism . The fever, thrombocytosis, high ESR with pericardial effusion and generalised lymphadenopathy could suggest an autoimmnune phenomenon in view of negative blood culture.
The diagnosis in this setting would be "COMMON VARIABLE IMMUNODEFICIENCY". Common variable immunodeficiency (CVID) is the most prevalent of the primary immunodeficiency diseases. Patients with CVID have marked reduction in serum levels of both immunoglobulin G (IgG) and immunoglobulin A (IgA); about half of these patients also have reduced immunoglobulin M (IgM). Clinical manifestations of CVID include recurrent infections, autoimmune disease, lymphoid hyperplasia, granulomatous diseases, and malignancy as was seen in this case. Treatment consists of IVIG replacement.

Compliance with ethical standards

Funding: None

Conflict of Interest: None

Cite this article as:
Shah I. A 7 years old boy with recurrent hypocalcemic convulsions and fever. Pediatr Oncall J. 2005;2: 29.