engleski

Trapped neutrophil syndrome – a case report

Trapped neutrophil syndrome (TNS) in Border Collies is an autosomal recessive inherited condition. This disease is poorly described in the scientific literature, but it is suggested that observed problems are primarily related to recurrent infections due to inherited neutropenic immunodeficiency. A 3-month-old Border Collie was referred to the Clinic for Infectious Diseases with a history of unilateral ocular discharge, diarrhoea, occasional weakness and incoordination of the hind limbs. A clinical examination revealed a persistent pupillary membrane, pain in the temporomandibular joint, ataxia and weakness in the hind limbs. Signs of occasional aggression and mood changes were also noted. The initial complete blood count (CBC) showed slight anaemia, leukopenia and neutropenia. Biochemistry revealed elevated levels of serum globulins, alanine aminotransferase and γ-glutamyl transferase. Hypoglycaemia was present despite an increased appetite. A partial improvement in the clinical condition was noted after the empirical use of ceftriaxone. The repeated CBCs revealed a normal neutrophil count, but, as all other tests (PCR for distemper, ANA-test, liver function tests, etc.) were negative, a blood sample was submitted for genetic testing. The obtained results revealed that the puppy was a homozygous carrier of a mutation in the VPS13B gene, with both gene copies in the shape of the defective gene responsible for the TNS (mutation). A significant clinical improvement was observed after initiation of oral prednisolone (1 mg/kg BID). During the ensuing three months, the puppy was presented with a relapse of the clinical symptoms on two occasions ; when prednisolone dosage reduction was attempted, and then again after six weeks, when the owner missed one day of therapy. On both occasions, despite an obvious clinical deterioration, neutrophil counts were within the reference range. To the best knowledge of the authors, this is the first described case of TNS without persistent neutropenia. The obtained findings suggest that genetic testing should be considered for all Border collie puppies presented with cases of unclear aetiology.

TNS, border collie, case report

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