COMBINATION OF WERDNIG HOFFMANN DISEASE AND CHRONIC RENAL FAILURE.
Introduction: Spinal muscular atrophy (SMA) is generally a neuromuscular disease with autosomal recessive inheritance and occur due to the mutations in survival motor neuron (SMN) gene. Pathogenesis of the disease is not completely known. Deletion and small intragenic mutations are detected in SMN1 gene. SMA type 1 or Werdnig Hoffman disease is the severest. The disease starts with birth, the infant is too loose, cannot hold his/her head, turn or sit, a severe respiratory difficulty is present and cannot survive without mechanic respiratory support. Suckling problems, respiratory difficulty, gastroesophagial refux and tendency to aspiration pneumonia and infections can be seen in SMA patients in newborns.
Case report: The infant was born through caesarean from a twenty-five year old mother as the fourth alive birth from the third pregnancy in the 34th week with a birth weight of 2450 gr. It was learned that fetal movements didn't decrease in prenatal period. Oligohidroamniosis developed in the intrauterine thirty third week and early membrane rupture occurred and the patient was hospitalized in newborn intensive care unit after intubating due to superficial respiration. Low-set ear and weak hypotonic and newborn refexes were detected in the physical examination. It was learned that the infant's sister/brother had renal failure in newborn period and died when a week old. In the renal ultrasonography made due to lack of urination in the follow-ups in the first 48 hours, the left kidney dimension was 35mm and was evaluated to be in the lower limit of normal values. Creatinine increased to 1.7 mg/dl. Peritoneum dialysis was started. Gene analysis was made as the patient could have SMA since the refexes were weak and hypotonicity was present. Deletion was detected in exon 8 area in SMN1 gene and SMA type 1 (Werdnig Hoffman disease) was diagnosed also considering postnatal age. The patient is being observed on mechanic ventilator in newborn intensive care unit and in elective conditions, kidney biopsy is being planned.
Conclusion: We wanted to present our case as it is the first newborn case with the combination of Werdnig Hoffman disease and nonfunctional renal failure according to the literature.
Tamer Gunes (1), Ahmet Ozdemir (1), Elif Suheda Kocaer (2), Ayse Seda Pinarbasi (3), Muammer Hakan Poyrazoglu (3), Ruhan Dusunsel (3), Mahir Ceylan (1), Hamit Acer (4), Sefer Kumandas (4), Mehmet Adnan Ozturk (1)
(1) Department of Pediatrics, Division of Neonatalogy, Erciyes University School of Medicine, Kayseri, Turkey
(2) Department of Pediatrics, Division of Neonatalogy, Erciyes University School of Medicine,
(3) Department of Pediatrics, Division of Pediatric Nephrology, Erciyes University School of Medicine, Kayseri, Turkey
(4) Department of Pediatrics, Division of Pediatric Neurology, Erciyes University School of Medicine, Kayseri, Turkey
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|Title Annotation:||Poster Presentation Abstracts|
|Author:||Gunes, Tamer; Ozdemir, Ahmet; Kocaer, Elif Suheda; Pinarbasi, Ayse Seda; Poyrazoglu, Muammer Hakan;|
|Publication:||Erciyes Medical Journal|
|Article Type:||Case study|
|Date:||Mar 1, 2017|
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