Paediatrica Indonesiana Case Report 176 • Paediatr Indones, Vol. 55, No. 3, May 2015 VOLUME 55 NUMBER 3 May• 2015 Management of Lowe syndrome: a case report Risky Vitria Prasetyo 1 , Heru Setiawan 1 , Ninik Asmaningsih Soemyarso 1 , Mohammad Sjaifullah Noer 1 , Irwanto 1 , Prastiya Indra Gunawan 1 , Rozalina Loebis 2 , Sri Andreani Utomo 3 , Ni Wayan Tirthaningsih 4 From the Department of Child Health 1 , Department of Ophthalmology 2 , Department of Radiology 3 , Department of Clinical Genetics 4 , Airlangga University Medical School/Dr. Soetomo Hospital, Surabaya, Indonesia. Reprint requests to: Risky Vitria Prasetyo, Department of Child Health, Airlangga University Medical School, Dr. Soetomo Hospital, Jalan Kertajaya Indah Tengah 6/14, Surabaya 60116, Indonesia. Tel +62-81- 6507203. E-mail: kikiprasetyo14@gmail.com. L owe syndrome (the oculocerebrorenal syn- drome of Lowe, OCRL) is a multisystem disorder characterized by anomalies affecting the eyes, nervous system and kidneys. 1-3 The disorder was first recognized by Lowe et al. in 1952, and described as a unique syndrome with organic aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation. In 1954, renal Fanconi syndrome was recognized as being associated with Lowe syndrome and in 1965, a recessive X-linked pattern of inheritance was determined. 2,4 Lowe syndrome is a very rare disease, with an estimated prevalence in the general population of 1 in 500,000. According to the Lowe Syndrome Association (LSA) in the USA, the estimated prevalence is between 1 and 10 affected males in 1,000,000 people, with 190 living in the year 2000. The Italian Association of Lowe Syndrome estimated that there were 34 Lowe syndrome patients (33 boys and one girl) living in Italy in the year 2005. 2,4,5 It almost exclusively affects males. 6 Physicians may not be familiar with Lowe syndrome due to its rarity. 4 The disease is caused by pathogenic DNA varia- tions in the OCRL1 gene on chromosome Xq24-26, which encodes phosphatidyl inositol polyphosphate 5-phosphatase. 4,7 More than 100 pathogenic DNA variations leading to Lowe syndrome have been de- scribed, of which more than 90% are located in two hot spots (exons 10-18 and 19-23) in the OCRL1 gene. 4 The pathogenesis of Lowe syndrome due to deficiency of a phosphatidyl inositol 4,5-bisphosphate 5-phosphatase in the Golgi complex is unknown. 5.8,9 Clinical and laboratory studies eventually lead to the correct clinical diagnosis, which can be confirmed by molecular studies of the OCRL1 gene located on chromosome Xq24-26. 4,6 The diagnostic triad of Lowe syndrome includes eye anomalies (congenital cataracts and infantile glaucoma) resulting in impaired vision, neurological deficits (infantile hypotonia with subsequent mental impairment and the absence of deep tendon reflexes), and renal tubular dysfunction of the Fanconi type with glomerulosclerosis, resulting in progressive chronic renal failure and end-stage re- nal disease. 2,4,8 Cataracts should be removed early in order to avoid amblyopia. Early targeted rehabilitation therapy is necessary to treat hypotonia. Renal tubular acidosis must be recognized and treated promptly with alkali supplements. These supplements should include citrates (sodium and/or potassium citrate) and sodium bicarbonate in various doses and combi- nations, to maintain serum bicarbonate levels. 2 The longest reported survival was that of a 54-year-old patient. Quality of life depends on the extent of