Differential Diagnosis for 15yo Male with Diarrhoea, Recurrent Cough, Short Stature, and Palmar Changes
Single Most Likely Diagnosis
- Cystic Fibrosis: This condition is characterized by recurrent respiratory infections (which could manifest as a recurrent cough), gastrointestinal symptoms like diarrhoea due to pancreatic insufficiency, and growth retardation leading to short stature. The palmar changes described could be related to the condition known as "hyperhidrosis" or more specifically, a condition that leads to transient palmar wrinkling after water exposure, which has been noted in some patients with cystic fibrosis, possibly due to eccrine gland dysfunction.
Other Likely Diagnoses
- Asthma or Allergic Bronchopulmonary Aspergillosis (ABPA): These conditions could explain the recurrent cough and, in the case of ABPA, could be associated with cystic fibrosis or asthma, contributing to the respiratory symptoms.
- Gastrointestinal disorders (e.g., celiac disease, Crohn's disease): These could cause diarrhoea and contribute to short stature due to malabsorption.
- Immunodeficiency: Conditions like Primary Immunodeficiency could lead to recurrent infections (including respiratory infections) and potentially gastrointestinal symptoms.
Do Not Miss Diagnoses
- Tuberculosis: Although less common in some regions, TB can cause chronic cough, diarrhoea (in abdominal TB), and growth retardation. It's crucial to consider due to its potential severity and the need for specific treatment.
- HIV/AIDS: This condition can lead to recurrent infections, gastrointestinal symptoms, and failure to thrive, making it a critical diagnosis not to miss.
Rare Diagnoses
- Shwachman-Diamond Syndrome: A rare genetic disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal abnormalities, and short stature, which could fit some of the patient's symptoms.
- Autoimmune Enteropathy: A rare condition causing severe diarrhoea and could be associated with other autoimmune phenomena, potentially explaining some of the patient's symptoms.