Lowe syndrome: a single center's experience in Korea

Abstract

PurposeLowe syndrome is a rare, X-linked recessive disorder caused by mutations in the OCRL gene. It involves multiple anatomic systems, particularly the eyes, central nervous system, and kidneys, and leads to profound growth failure and global developmental delay. This study evaluated the clinical and genetic characteristics of Korean patients with Lowe syndrome.MethodsThe clinical findings and results of genetic studies were reviewed for 12 male patients diagnosed with Lowe syndrome at a single medical institution.ResultsThe mean age of the patients at presentation was 2.2 months (range, 0-4 months), although the diagnosis was delayed by a mean of 2.8 years (range, 0-9.7 years). The mean follow-up period was 9.0 years (range, 0.6-16.7 years). Nine mutations in OCRL were identified in 11 patients (92%), with three novel mutations. The main presentation was congenital cataract in both eyes necessitating early cataract removal in the 11 patients with impaired visual acuity. Profound short stature and developmental delay were observed in all patients, and seizures occurred in 50% of the patients. All patients suffered from proximal renal tubular dysfunction, and one patient developed chronic renal failure. Other manifestations included pathologic fracture (50%), cutaneous cysts (42%), and cryptorchidism (42%). However, there was no bleeding tendency, and none of the patients died during the study period.ConclusionThis study describes the clinical and genetic characteristics of Korean patients with Lowe syndrome. The observations are helpful for understanding the natural courses of Lowe syndrome and for appropriate genetic counseling.

Gonadotrophin abnormalities in an infant with Lowe syndrome

“…The clinical endocrine abnormality in our case was bilateral impalpable testes; two papers identify seven cases of cryptorchidism in Lowe syndrome (5, 6), but do not specify whether they were undescended but palpable or impalpable testes.…”

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

“…General information: X‐linked, recessive disorder with an estimated prevalence of .1–.2 in 100,000 patients …”

“…Somatic findings: Congenital cataracts, cognitive impairment, and progressive proximal renal tubular dysfunction (Fanconi syndrome), as well as failure to thrive, short stature, facial dysmorphisms (frontal bossing, deep‐set eyes, and protruding ears), dental malformation, and superficial cysts …”

“…Skeleton: Pathologic bone fractures with hyperplastic callus, rickets, osteoporosis, scoliosis, kyphosis, platyspondyly, genu valgum, and hip dislocation …”

“…General information: X-linked, recessive disorder with an estimated prevalence of .1-.2 in 100,000 patients. 348 Somatic findings: Congenital cataracts, cognitive impairment, and progressive proximal renal tubular dysfunction (Fanconi syndrome), as well as failure to thrive, short stature, facial dysmorphisms (frontal bossing, deep-set eyes, and protruding ears), dental malformation, and superficial cysts. 348 Skeleton: Pathologic bone fractures with hyperplastic callus, rickets, osteoporosis, scoliosis, kyphosis, platyspondyly, genu valgum, and hip dislocation.…”