Background: Growth impairment is a common problem in Chronic Kidney Disease (CKD) children. Approximately 40% of children with CKD have a reduced final height. Growth impairment affects school attendance, duration of hospitalization, adult height, and even risk of death. Objectives: Various studies have shown that patients with moderate to severe growth failure have higher mortality rates (three folds) than those with normal growth. This narrative review aimed to define the management of growth in pediatric chronic renal failure. Methods: This study was conducted through a literature search with the keywords of chronic renal failure, kidney transplant, Glomerular Filtration Rate (GFR) combined with growth, short stature, and growth hormone using PubMed, Scopus, Web of Sciences, Cochrane, and Embase databases. Results: Growth impairment in children with CKD occurs due to diverse etiologies, such as uremia, anemia, metabolic acidosis, etc. It becomes more prominent in GFR<75 ml/min/1.73 m2. Growth hormone (GH) therapy seems to be a safe and effective therapeutic modality consequent to the correction of associated metabolic disturbances. Conclusions: This study indicated that pretransplant GH therapy in children with CKD and its temporary discontinuation at kidney transplantation up to one year after transplantation leads to improved growth velocity. Therefore, it seems that considering GH therapy in children with CKD is mandatory.

Background: Gonadal dysgenesis, the most common cause of primary amenorrhea, is characterized by absent or underdeveloped ovaries. Although the coexistence of gonadal dysgenesis and Mayer-Rokitansky-Küster-Hauser (MRKH) has been reported, it is still quite infrequent. To the extent that authors searched, just one study reported the association between Rokitansky sequence and Dandy-Walker malformation. Clinical Presentation and Intervention: We aimed to report a case with gonadal dysgenesis, MRKH, and the Dandy-Walker variant. In this care report, the authors reported a 15-year-old girl with primary amenorrhea and underdeveloped secondary sexual properties. Her karyotype was 46, XX. The abdominopelvic MRI without contrast demonstrated bilateral ovarian agenesis and no uterus or cervix. Vagina was normal in length. Brain MRI was consistent with the Dandy-Walker variant. Conclusion: Although some affected chromosomal regions have been identified, further genetic analyses should be performed to elucidate the probable association between these anomalies.

Background: Neuronal ceroid lipofuscinoses (NCL) is a rare progressive neurodegenerative disorder caused by more than 530 mutations of at least 13 different genes (CLN 1-14). NCL is a part of the lysosomal disease characterized by the presence of neuronal and extraneural autofluorescent lipopigment accumulations that leads to motor and mental deterioration, developmental regression, seizure, vision loss, and premature death. NCL is classified into four main groups based on the different clinical manifestations and age of presentation. In this study, we aimed to report an unusual presentation of NCL with CLN6 mutation without retina involvement. Case Presentation: We reported a 10-year-old boy with mixed types of seizures, developmental delay, cognitive problems, unsteady gait, and speech disorders. Although after a thorough assessment, CLN6 mutation was diagnosed, he had all symptoms of this mutation, except the visual impairment. Conclusion: According to recent NCL case reports from Asia, full familiarity with its presentation by pediatricians and neurologists is obligatory. Children with developmental regression or refractory seizures, who also have visual or other neurological symptoms such as ataxia and other cerebellar symptoms, even at older ages, should be evaluated for NCL. Attention to ophthalmological examinations and neurological signs and confirming the diagnosis by biopsy or genetic analysis is desirable to prevent missed diagnosis.