Linear nevus sebaceous syndrome (LNSS) is a rare neurocutaneous disorder. It is characterized by the presence of nevus sebaceous, ocular anomalies, neurological deficits, and convulsion. Renal involvement was not commonly reported. We report a 10-year-old girl with LNSS who had concomitant cystic kidney disease and diffuse aortopathy with bilateral renal artery stenosis, leading to hypertension requiring oral anti-hypertensive medications. The girl presented with chorioretinal coloboma and multiple nevus sebaceous at birth. She had aortic coarctation and received surgical repair at one week of life. She had persistent hypertension during her follow-up. Further investigations were performed to look for causes of hypertension apart from possible re-coarctation. Her magnetic resonance angiogram revealed diffuse aortopathy, which extended from the aortic arch to the abdominal aorta. Branches of the aorta, including the celiac trunk, superior mesenteric arteries, and renal arteries, were also narrowed. Multiple renal cysts were also identified in her right kidney. Interventional angioplasty over the renal arteries was not feasible due to diffuse narrowing of the aorta, especially at the origins of renal arteries. The blood pressure was controlled with oral anti-hypertensive medications. Our case illustrated that pediatricians should be aware of the possible renal involvements in LNSS, which impose a significant impact on the management and long-term prognosis of these patients.
tested, and to investigate if any of those features corresponded with a greater likelihood of predicting a genetic diagnosis. Information was obtained by accessing electronic clinical records. Of the 99 children who had genetic testing, 5 children were excluded due to insufficient available information. The characteristics that were assessed in the 94 remaining children included: hearing loss or visual problems either in the proband or in first degree relatives, proteinuria at the time of referral, family history of renal disease, abnormal renal function, hypertension and proteinuria, and a history of previous urinary tract infections. The probability of certain characteristics being associated with an underlying genetic diagnosis was evaluated by calculating likelihood ratios Results Of the 94 children, 65% were male. Median age was 9 years (range 9 months-16 years). Median time from haematuria onset to referral to the tertiary nephrology centre was 7 months (range 1-108 months) and median time from referral to genetic testing was 8 months (range 1-86 months). 28% of the children were found to have an underlying genetic cause of their haematuria or had genetic variants of yet unknown clinical significance (VUS). In the children who had VUS, 38% of mutations were in COL4A3, 31% in COL4A4, 15% in COL4A5, 8% in COL4A6 and 8% in NPHS2. Of the characteristics analysed, co-existing visual problems demonstrated a notable increased likelihood of a genetic diagnosis (likelihood ratio=25). Co-existing family history of renal disease only led to a marginal increased likelihood of a genetic diagnosis (likelihood ratio=1.87). Conclusion This is the largest single centre review to date correlating clinical phenotype in children with persistent haematuria with COL4 genetic testing. From this we can infer that children who present with haematuria should have an early ophthalmological assessment and those who also have visual impairment should be prioritised for genetic testing to assess for variations in the COL4A genes as this increases the pretest probability of a positive genetic result.
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