Pediatric Clinic, Department of Pediatrics, University Hospital of Verona, Piazzale Stefani 1, 37126, Verona, Italy.
Pediatric Unit, Hospital of Feltre, Feltre, Italy.
Ital J Pediatr. 2017 Jul 28;43(1):64. doi: 10.1186/s13052-017-0381-9.
Short stature (SS) is a relatively early sign of poor health. Only in 5% of cases we can explain it through the presence of endocrinological pathologies. Therefore, if SS is present since the first months of life, it is necessary to investigate all systemic disorders with secondary effects on growth.
We report the case of a 16-months-old male infant with severe SS apparently not associated with other clinical signs or symptoms. The patient arrived to our attention after he was hospitalized for an Echovirus enteritis, associated to moderate neutropenia (800/mm) and hypertransaminasemia (AST 116 U/L, ALT 88 U/L) at the age of 13 months. SS was detected in that occasion. Since SS persisted even after the complete resolution of enteritis symptoms, he was taken care by our unit.
SS appeared in the first months of life and associated with moderate neutropenia and hypertransaminasemia led us to the diagnosis of Shwachmann-Diamond syndrome. We recommend paying further attention to this condition during the differential diagnosis of children with severe SS.
身材矮小（SS）是健康状况不佳的一个相对早期的迹象。只有在 5%的情况下，我们可以通过存在内分泌病理学来解释它。因此，如果 SS 从生命的第一个月就存在，就有必要调查所有对生长有继发性影响的全身性疾病。
我们报告了一例 16 个月大的男性婴儿，其严重的 SS 显然与其他临床体征或症状无关。该患者因埃可病毒肠炎而住院，13 个月时伴有中度中性粒细胞减少症（800/mm）和高转氨酶血症（AST 116 U/L，ALT 88 U/L），之后我们开始注意到该患者。当时检测到了 SS。由于肠炎症状完全缓解后 SS 仍持续存在，因此他被转到我们科室进行治疗。
SS 出现在生命的前几个月，与中度中性粒细胞减少症和高转氨酶血症相关，这促使我们做出了 Shwachmann-Diamond 综合征的诊断。我们建议在儿童严重 SS 的鉴别诊断过程中，对这种情况给予更多关注。
