Aims Alpha 1 antitrypsin deficiency (AATD) is a rare co-dominantly inherited disease mainly affecting the liver and respiratory system. The presentation with peripheral neuropathy in children has not been reported yet according to our knowledge. We herein report a case of AATD that presented as demyelinating peripheral neuropathy at the age of 3 years.

Mast D, born without any significant concerns during pregnancy to a non-consanguineous healthy parent. No family history of a similar disease or any other neurological diseases was identified. He presented with delayed walking, unsteady gait with frequent falling and flat feet at 3 years of age. Other developmental milestones were age appropriate including fine motor and social milestones. His only admission to hospital was at 1 year of age for simple febrile convulsion.

His growth parameters were within the normal range. There was no muscle wasting or contracture to denote any long-standing illness. He was mildly hypotonic symmetrically in both limbs while maintaining a good muscle power, measuring of 4/5 on the MRC scale. His tendon reflex was globally diminished. He did not have any elicitable sensory abnormalities.

Results His nerve conduction study revealed as demyelinating sensory-motor peripheral neuropathy.

While extensively evaluating of peripheral neuropathy, found to have very low serum Alpha 1 protein in serum protein electrophoresis. The subsequent genetic mutation analysis for Alpha 1 Anti Trypsin Deficiency (AATD) became positive and he was deficient in PI*Z allele.

Ultimately, he was diagnosed as Alpha 1 Antitrypsin Deficiency with demyelinating peripheral polyneuropathy. He was treated with high dose steroids and immunomodulator therapy. He showed a marked improvement. He improved tremendously to have a normal walking pattern without fall and unsteady gait within 2 months of treatment despite diminished reflexes. At six and half years, he had a clinical event of difficulty in walking following a febrile illness. The concurrent NCS revealed severe sensory-motor demyelinating polyneuropathy which responded dramatically to steroid pulse therapy again. He is now on a low dose of steroids with a steroid sparing agent and is leading a normal life while being followed up at a medical clinic for proper precautionary management for his AATD with regular lung function test and prophylactic vaccinations.

Conclusion AATD can very rarely present as peripheral neuropathy. The importance of diagnosis is heightened by the necessity for timely management and prevention of systemic complication. The rarity of the condition may lead to overlooking investigation for AATD as an aetiology for peripheral neuropathy.

Immunomodulatory treatment was found to be effective in treatment of our patient with AATD similar to the previously reported adult patient. The treatment duration needs to be established, may be longer than in patients with idiopathic chronic demyelinating neuropathy as the underlying AATD which is postulated to be involved in the pathological process essentially remains throughout life. Here we draw attention to the relapse of disease in our patient after two years of treatment. The actual pathophysiology and the role of immunotherapy as well as the efficacy of AATD targeted therapy on neuropathy need to be studied further.