The oculocerebrorenal syndrome of Lowe (LS) is a rare, progressive, multisystemic X-linked disorder caused by mutations in OCRL gene. Patients classically present with ocular abnormalities including bilateral congenital cataracts and glaucoma, intellectual delay, severe generalized hypotonia with absent tendon reflexes, and proximal renal tubular dysfunction. Congenital bilateral cataracts and hypotonia are present at birth in almost all patients, while other classical symptoms develop gradually with variable severity. Consequently, differential diagnosis in infant period in these patients can be broad including other rare metabolic and neurologic disorders.

Herein we present a 4.5 year old boy with Lowe syndrome caused by mutation of OCRL gene, NM_000276.4:c.643C > T; p.(Gln215*), initially diagnosed as having mitochondriopathy due to alteration of mitochondria on electron microscopic examination in different tissues and decreased values of mitochondrial energy metabolism measurements in muscle. No pathogenic mutations in mitochondrial DNA were found on whole exome sequencing.

This patient recall historical hypothesis of secondary mitochondrial dysfunction in Lowe syndrome, that may be caused/intensified by some of disease symptoms.

Lowe的眼脑肾综合征（LS）是由OCRL基因突变引起的罕见，进行性，多系统性X连锁疾病。典型地，患者表现为眼部异常，包括双侧先天性白内障和青光眼，智力迟钝，严重的全身性肌张力低下，腱反射缺失以及近端肾小管功能障碍。几乎所有患者在出生时都会出现先天性双眼白内障和肌张力低下，而其他典型症状则随着严重程度的不同逐渐发展。因此，这些患者在婴儿期的鉴别诊断可能很广泛，包括其他罕见的代谢和神经系统疾病。

本文中，我们介绍了一个由OCRL基因突变NM_000276.4：c.643C> T引起的Lowe综合征的4.5岁男孩。p。（Gln215 *），最初被诊断为线粒体病，是通过电子显微镜检查不同组织中的线粒体改变以及肌肉中线粒体能量代谢测量值降低所致。整个外显子组测序未发现线粒体DNA的致病突变。

该患者回顾了Lowe综合征继发性线粒体功能障碍的历史假说，该假说可能是由某些疾病症状引起/加剧的。