Mystery of a Family with Recurrent Male Infant Deaths- Solved by Autopsy and Molecular Tests
- PDF / 4,945,198 Bytes
- 6 Pages / 595.276 x 790.866 pts Page_size
- 34 Downloads / 159 Views
CLINICO PATHOLOGICAL CONFERENCES
Mystery of a Family with Recurrent Male Infant Deaths- Solved by Autopsy and Molecular Tests Nameirakpam Johnson 1 & Akriti Bansal 2 & Ankush Jindal 1 & Vijai Williams 1 & Debajyoti Chatterjee 2 & Biman Saikia 3 & Pandiarajan Vignesh 1 & Amit Rawat 1 Received: 23 October 2019 / Accepted: 9 April 2020 # Dr. K C Chaudhuri Foundation 2020
Abstract The authors report a case of a six weeks old boy who presented with acute febrile illness and progressive abdominal distension. There was a significant family history of early male sibling deaths. Autopsy showed multiorgan abscesses. Molecular test revealed final diagnosis of the child. Keywords Acute abdominal distension. Immunodeficiency disorder. Chronic granulomatous disease. Aspergillus. Burkholderia cenocepacia
Clinical Protocol History and Examination A six weeks old boy presented with acute febrile illness with abdominal distension for 4 d. He was admitted to a hospital elsewhere where he received intravenous (IV) cefotaxime. The abdominal distension was progressively increasing and he developed altered sensorium for which the child was referred to authors’ institute. The child was born out of nonconsanguineously married couple and was seventh in birth order. Three elder male siblings had similar illnesses who expired at the age of 9 mo, 6 mo, and 1 mo respectively. Examination revealed tachycardia (pulse rate- 140/min), tachypnea (respiratory rate- 58/min), normal blood pressure 98/64 mmHg and oxygen saturation [SpO2–100% (on 40% Electronic supplementary material The online version of this article (https://doi.org/10.1007/s12098-020-03304-0) contains supplementary material, which is available to authorized users. * Pandiarajan Vignesh [email protected] 1
Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India
2
Department of Histopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India
3
Department of Immunopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India
FiO2)]. He weighed 4.1 kg (+1.44 Z) and had a length of 54 cm (+1.03 Z) with a head circumference of 41 cm (+1.2 Z). He was febrile (temperature- 38.5 °C), had pallor with generalized abdominal distension and absent bowel sound. Cardiovascular and neurological examinations were unremarkable.
Investigations Investigations revealed pancytopenia and normal biochemical parameters. Arterial blood gas analysis showed a normal anion gap metabolic acidosis (Table 1). Blood culture grew Burkholderia cenocepacia. The immunoglobulin profile showed high IgM and low IgG levels for age. The lymphocyte subset (T, B, natural killer cells) and CD 132 expression analysis by flow cytometry were normal (Table 1). X-ray abdomen (Suppl. Fig. 1) and ultrasonography (USG) abdomen were suggestive of non-mechanical ileus.
Course and Management The child was managed as a case of septic ileus and was put on continuous Ryle’s tube aspiration and started on IV c
Data Loading...
