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conferenceseries
.com
Volume 05
Neonatal and Pediatric Medicine
ISSN: 2572-4983
World Pediatrics 2019
December 04-05, 2019
December 04-05, 2019 | Barcelona, Spain
32
nd
World Pediatrics Conference
Case report of malignant infantile osteopetrosis presenting with persistant infantile hypocalcemia
Vivetha Elango
Kempegowda Institute of Medical Sciences, India
M
alignant infantile osteopetrosis is a rare autosomal recessive disorder with a incidence of 1 in 2,50,000
children, presenting in infancy. It is a bone dysplasia characterised by reduced resorption of bone and diffuse
symmetrical sclerosis due to impaired function of osteoclasts. This leads to obliteration of marrow cavity by bony
overgrowth resulting in inability of bone marrow to participate in hematopoiesis. It presents with pancytopenia
resulting in abnormal bleeding, easy bruising, progressive anemia and failure to thrive. Hepato splenomegaly due
to extra medullary erythropoiesis, delayed dentition, cranial nerve palsies (deafness, blindness), hydrocephalus
and seizures due to hypocalcemia. We describe the case of a 4 day old male neonate a third born to a 2
nd
degree
consanguinously married couple, who presented with fever and two episodes of convulsions from day 4 of life vitals
were stable with mild hypotonia on examination. Suspecting neuro infection due to late onset sepsis, a lumbar
puncture was done which showed features of pyogenic meningitis. Routine investigations revealed hypocalcemia
and calcium correction was given. Antibiotics, anticonvulsants were started and calcium maintenance dose was
given. Child had two further convulsions in NICU. Repeat Lumbar puncture was normal and MRI brain was
normal. Investigations continued to show persistent hypocalcemia despite adequate maintenance dose of calcium.
Other workup for persistent hypocalcemia were normal except for chest X-ray which showed sclerotic changes.
X-ray of other bones also showed diffuse sclerosis, bone in bone appearance. Later DNA analysis was sent which
showed mutation of TCIRG1(+), homozygous with autosomal recessive inheritance specific for malignant infantile
osteopetrosis. Osteopetrosis remains as a rare cause by clinicians unrecognized for neonatal hypocalcemia, which
often results in diagnostic confusion and delay. This is important as early intervention with curative hemopoietic
stem cell transplantation before optic nerve compression can help preserve the eyesight and improve the survival of
the infant.
Biography
Vivetha Elango has completed MBBS in the year 2016. She is pursuing her postgraduate in MD pediatrics at Kempegowda Institute of Medical Sciences
Bangalore. This is currently the first paper that has been done.
Vivetha Elango, Neonat Pediatr Med 2019, Volume: 05