CRP9 HEINER SYNDROME IN INFANCY: A REVERSIBLE DIAGNOSIS OFTEN MISSED

Hui Ying Lee1, Kah Peng Eg1,2, Jessie de Bruyne2, Shih Ying H’ng2, Yan Yi Neo2, Syaza Zafirah Rahman1,2, Anna Marie Nathan1,2
1 Universiti Malaya, Kuala Lumpur, Malaysia
2 Universiti Malaya Medical Centre, Kuala Lumpur, Malaysia 

Introduction
Heiner syndrome is a rare, but treatable, non-IgE-mediated hypersensitivity to cow’s milk. It is characterized by fever, failure to thrive, anaemia and recurrent respiratory tract symptoms with chest radiograph infiltrates mimicking pneumonia. Diagnosis is often delayed due to its heterogeneous clinical presentation and rarity.

Case Report
We report a 7-week-old (ex-preterm 31 weeks) male infant with underlying iron deficiency anaemia, seborrheic dermatitis and failure to thrive, who presented with recurrent episodes of apnoea, without fever or respiratory tract symptoms. He was treated for meningitis; however cerebrospinal fluid was negative for infection. Despite adequate antibiotic coverage, apnoea recurred, with new symptoms of recurrent vomiting and tachypnoea. CXR showed bilateral patchy consolidation despite strict Ryles tube feeding, raising suspicion of tracheoesophageal fistula. Bronchoscopy revealed diffuse alveolar haemorrhage, with positive hemosiderin-laden macrophages in the bronchoalveolar lavage but negative cultures. HRCT thorax showed patchy consolidation in bilateral lungs, with negative echocardiogram bubble test ruling out thoracic arteriovenous malformation. 

As the patient had underlying eczema, along with haematological abnormalities including hypereosinophilia (highest 3.89 x 109/L), anaemia, and thrombocytopenia, Heiner Syndrome was suspected. He was empirically switched to an amino acid-based formula, resulting in resolution of apnoea and vomiting, improved weight gain, and correction of anaemia. The result of elevated cow’s milk protein-specific IgE and casein-specific IgG later confirmed the diagnosis of Heiner syndrome.

Conclusion
Cow’s milk allergy is prevalent. Heiner syndrome is a rare presentation of this disease, but should be considered in infants with unexplained respiratory, gastrointestinal, or hematological symptoms. A hallmark of diagnosis is the resolution of symptoms upon elimination of cow’s milk from the diet.