# Case Report: Successful treatment of spondyloenchondrodysplasia with immune dysregulation using tofacitinib and ruxolitinib: a report of two pediatric cases

## TL;DR

Two children with a rare genetic disorder called SPENCDI showed improvement after treatment with specific drugs.

## Contribution

This case report presents two pediatric SPENCDI cases with a novel ACP5 mutation and successful treatment using tofacitinib and ruxolitinib.

## Key findings

- Patients showed autoimmune hemolytic anemia and immune thrombocytopenia as key symptoms.
- Genetic testing confirmed SPENCDI diagnosis in both girls.
- Treatment with tofacitinib and ruxolitinib led to successful management of symptoms.

## Abstract

Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is autosomal recessive hereditary disease caused by tartrate resistant acid phosphatase 5 (ACP5) mutations. The symptoms mainly involve the bone, immune system and nervous system, and the typical manifestations are short stature, abnormal development of long diaphyseal epiphysis, flat vertebra, and prone to various autoimmune diseases. Some children have muscle spasm, mild mental retardation, intracranial calcification and other neurological manifestations. Here we reported two cases of SPENCDI caused by a new mutation in ACP5. The clinical manifestations were autoimmune hemolytic anemia, immune thrombocytopenia, abnormal bone development, intracranial calcification, short stature, and growth retardation. The patients were girls and diagnosed with SPENCDI by genetic test.