Pearson Syndrome: Spontaneously Recovering Anemia and Hypoparathyroidism
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CLINICAL BRIEF
Pearson Syndrome: Spontaneously Recovering Anemia and Hypoparathyroidism Mayank Nilay 1 & Shubha R. Phadke 1 Received: 29 November 2019 / Accepted: 30 April 2020 # Dr. K C Chaudhuri Foundation 2020
Abstract Pearson syndrome is a genetic disorder caused by mutations in the mitochondrial genome, characterized by failure to thrive with hematological and gastrointestinal abnormalities. Individuals with Pearson syndrome may develop the symptoms and signs of Kearns-Sayre syndrome with multisystem involvement. Spontaneous recovery of hematological problems is reported as is the situation in the present case. The child reported here was born out of in-vitro fertilization. She was maintaining normal hemoglobin level for more than three and a half years but had been detected to have hypoparathyroidism. The diagnosis of Pearson syndrome was confirmed by presence of deletion in mitochondrial genome. Awareness about this rare disorder will help clinicians to broaden their differentials when dealing with common presentations like failure to thrive and anemia. Keywords Pearson syndrome . Hypoparathyroidism . Sideroblastic anemia . Failure to thrive . Mitochondrial genome
Case Report A 5-y-old girl was referred to medical genetics department in view of hypocalcemia and anemia with poor growth and history of multiple blood transfusions. Age of onset of transfusion dependent anemia was 6 mo with lowest documented hemoglobin being 5.8 g%. She received five packed red blood cells transfusions till 18 mo of age followed by spontaneous recovery and maintenance of normal hemoglobin levels. She was born out of in-vitro fertilization (ovum and sperm of parents) done in view of primary infertility and oligospermia. There was no history of any miscarriage or stillbirth in the family. Antenatal and neonatal period was uneventful. All the developmental milestones were appropriate for age. There was no history suggestive of any other family member having similar complaints. Her father, paternal and maternal grandparents were diagnosed cases of type 2 diabetes mellitus and her mother was diagnosed with hypothyroidism. At 5 y of
* Shubha R. Phadke [email protected] 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Lucknow, Uttar Pradesh 226014, India
age her height was 94 cm (Z-score of −3.4 SD, but within normal range as per target height), weight was 12 kg (Z-score of −3.2 SD) and head circumference was 48 cm (Z-score of −1.8 SD). She did not have any dysmorphism. General and systemic examination was within normal limits except for poor growth. Total leukocyte count (11,600/cu mm) and platelet count (2.28 lakh/cu mm) were normal. Serum Lactate was 37.5 mg/dl at first hospital admission (Normal range ~ 5– 15 mg/dl). Bone marrow examination done during infancy had revealed 15% ringed sideroblasts. Around 5 y of age her hemoglobin was 13 g% but she complained of fatigue with muscle weakness and was found to have hypocalcemia (Serum calcium- 7.1 mg/dl). Further
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