A Rare Case of Bare Lymphocyte Syndrome Presenting As Chronic Type 2 Respiratory Failure

Type 2 respiratory failure, or hypercapnic respiratory failure, is brought on by low oxygenation (hypoxemia) and inadequate breathing (hypercapnia). It is produced by factors that can create an imbalance between the requirement and capacity of the respiratory system. The factors can include an incre...

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Bibliographic Details
Published in:Curēus (Palo Alto, CA) CA), 2024-07, Vol.16 (7), p.e64951
Main Authors: Bhatnagar, Aayushi, Velagala, Vivek R, Vagha, Jayant D, Lohiya, Sham, Wazurkar, Ajinkya, Wandile, Shailesh, Javvaji, Chaitanya Kumar
Format: Article
Language:English
Subjects:
Acidosis
Allergy/Immunology
Blood
Carbon dioxide
Case reports
Electroencephalography
Fever
Hypoventilation
Hypoxemia
Intensive care
Lungs
Neuromuscular diseases
Pediatrics
Proteins
Pulmonology
Respiratory failure
Sepsis
Thorax
Tomography
Tuberculosis
Ventilators
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Summary:Type 2 respiratory failure, or hypercapnic respiratory failure, is brought on by low oxygenation (hypoxemia) and inadequate breathing (hypercapnia). It is produced by factors that can create an imbalance between the requirement and capacity of the respiratory system. The factors can include an increased requirement for muscles of respiration, reduction in their strength or effectiveness, or impediment of the ventilatory drive. Rarely, it can be caused by the bare lymphocyte syndrome (BLS), which usually affects young children and has a poor prognosis with accompanying debilitating disabilities. This is a case report that shares the unique findings of a 13-year-old patient with type 1 BLS and atopy, who is suffering from type 2 respiratory failure. She is susceptible to respiratory tract infections and has been treated for bronchopneumonia and tuberculosis in the past. She has been on assisted ventilation for the past 3.5 months, along with supplementary nutrition. She has been evaluated meticulously and methodically, ruling out other causes of her respiratory failure. Recognizing the root cause aided in her therapy and preventing mortality. This has been determined using clinical findings, lab results, and radiological reports. The diagnosis of hypercapnic respiratory failure was confirmed via an arterial blood gas analysis, whereas that of BLS was confirmed through a whole genome sequence test. Management entailed addressing the underlying cause, optimizing ventilation, and using mechanical ventilation to maintain respiratory function. Early detection and timely intervention were critical in enhancing the outcome for the patient.
ISSN:2168-8184
2168-8184
DOI:10.7759/cureus.64951