Mitochondria have a critical role in energy metabolism, generating and scavenging of free radicals, intracellular Ca2+ regulation, and cell mitophagy. Dysfunction of the mitochondrial oxidative phosphorylation complex is the most frequent inborn errors of metabolism. Mitochondrial diseases are highly diverse in etiology, age of the disease onset, involvement of multiple organ systems, and genetic causes. NDUFV1 is a core subunit of mitochondrial Complex I (CI), and mutations cause CI deficiency. Clinically, CI deficiency is associated with severe infantile lactic acidosis, cardiomyopathy, encephalomyopathy, leukoencephalopathy, and Leigh syndrome. The cellular biology and molecular mechanisms of mitochondrial diseases are still elusive due to the heterogeneous genetic background and lack of phenotype-genotype correlation. Neurological abnormalities are the second most frequent presentations of mitochondrial diseases, including white matter abnormalities, psychomotor regression, and mental disability. The defects in myelin sheath or glial cells cause leukodystrophy which is a progressive genetical syndrome. To date, no therapy is available to cure mitochondrial diseases; exploration of the phenotype and molecular background are crucial for disease diagnosis, supportive treatments, proper genetic counselling, prenatal diagnosis, and experimental treatments. This article underscores the atypical clinical presentations of NDUFV1 mutations and the importance of a multidisciplinary approach to correlate phenotypes, biochemical, radiological, and molecular diagnosis. Implementation of multidisciplinary approach will enhance the possibility of discovering the therapeutic targets to treat mitochondrial disorders and ensure prenatal diagnosis to prevent inherited diseases.
A case of spontaneous priapism in a ten year old child with acuta lymphoblastic leukaemia is presented. Emergent management options like drainage, sympathomimetic agents, and medical treatment to reduce circulating white cell counts and shunt surgery are discussed.
Acute scrotum is a common clinical problem in children and torsion event superimposed on complete dissociation of the testicle and epididymis can be difficult to diagnose and often requires scrotal exploration. To the best of our knowledge, four cases of isolated torsion of the epididymis have been reported in the literature. We report a 17-year-old male patient with epididymal torsion who presented with testicular pain and hemi-scrotum swelling. Due to painful symptoms, emergency scrotal surgery exploration of the patient revealed a complete epididymis infarction due to isolated epididymal torsion with dissociation of the testis and epididymis.
Living with chronic kidney disease (CKD) is associated with hardships for patients and their care-partners. Empowering patients and their care-partners, including family members or friends involved in their care, may help minimize the burden and consequences of CKD related symptoms to enable life participation. There is a need to broaden the focus on living well with kidney disease and re-engagement in life, including an emphasis on patients being in control. The World Kidney Day (WKD) Joint Steering Committee has declared 2021 the year of “Living Well with Kidney Disease” in an effort to increase education and awareness on the important goal of patient empowerment and life participation. This calls for the development and implementation of validated patient-reported outcome measures to assess and address areas of life participation in routine care. It could be supported by regulatory agencies as a metric for quality care or to support labelling claims for medicines and devices. Funding agencies could establish targeted calls for research that address the priorities of patients. Patients with kidney disease and their care-partners should feel supported to live well through concerted efforts by kidney care communities including during pandemics. In the overall wellness program for kidney disease patients, the need for prevention should be reiterated. Early detection with a prolonged course of wellness despite kidney disease, after effective secondary and tertiary prevention programs, should be promoted. WKD 2021 continues to call for increased awareness of the importance of preventive measures throughout populations, professionals, and policymakers, applicable to both developed and developing countries.
Lichen scleroatrophicus (LS) is a chronic, progressive, inflammatory dermatosis of the skin and mucous membranes, initially characterized by ivory-colored, oval and sharply demarcated papules, plaques and atrophy. The cause of the disease is still unknown, although autoimmune, genetic, hormonal and infectious factors are to blame. The disease is usually anogenital in childhood. Extragenital placement is very rare during this period. The abrasive appearance can be confused with child abuse, especially in genital LS. In this article we present a 4-year-old girl case with genital and extra genital LS lesions.
Longitudinal Vaginal Septum (LVS) is a rarely encountered anomaly in the pediatric age group. It usually occurs in association with Mullerian Duct Anomalies (MDAs), Urogenital Sinus (UGS), and cloaca or may also rarely as an isolated entity [1]. As a result of an obstruction in the vaginal cavity caused by LVS, it usually presents in adults causing dyspareunia, hematocolpos and infertility. Presentation in childhood and prepubescent girls is rare [1]. This article aims to report a rare case of UGS with LVS presenting as pyocolpos in a child and also to highlight the early endoscopic management of LVS along with the simultaneous repair of UGS.
To report a case of pediatric penoscrotal injury and review of the literature for similar cases to evaluate the prevalence, etiology of injuries, methods of reconstruction, surgical complications and end result
Background: SplenoGonadal Fusion (SGF) is a very rare anomaly in which accessary splenic tissue are fused to the left testis. It is either continuous or discontinuous type. Many cases end up having orchidectomy due to lack of awareness of the condition as it mimic a testicular tumor. Case report: A 22 months old boy with severe penoscrotal hypospadias, bilateral impalpable testes and major cardiac anomalies, had a laparoscopy for his testes, which revealed left testicular mass with accessary splenic tissues attached to the upper pole. It was in turn connected to the normal spleen with a cord of splenic beads. Successful two stage FS procedure was performed for his testis. Conclusion: Possibility of SGF should be considered when seeing a testicular mass with accessary spleens attached to the testis.
Urethral polyps also known as fibroepithelial polyps, prostatic urethral polyps (in males) or benign urethral polyps and are very rare. They are most common benign mesodermal tumours of the urinary tract. They present with variety of urinary tract symptoms. Voiding Cystourethrogram (VCUG) is the first investigation requiring careful interpretation. Cysto-urethroscopy is the investigation of choice for final diagnosis and excision of urethral polyps. We report a case of an 8-year-old boy who presented with lower urinary tract symptoms. Radiological investigation revealed bilateral hydroureteronephrosis. We con-firmed the diagnosis and excised the urethral polyp endoscopically with Holmium YAG Laser rendering patient completely free of symptoms.
Diphallia is a very rare congenital anomalies occurs 1: 5-6 Million live birth. Associated anomalies like imperforate anus, vertebral deformities, double bladder, exstrophy of the cloacae, and duplication of the recto sigmoid may occurs in association with this. Amongst all anorectal malformations is a common congenital anomaly that can occur in association with diphallia. Here we are presenting a neonate with double functional penis, partial scrotal dysraphism, high anorectal malformations, presence of spina bifida occulta and a perineal lipoma successfully managed by us at our center
Introduction Duplex renal system anomalies can be diagnosed antenatally, but most commonly postnatally due to symptoms. Although females are more affected than males, the left and right sides are equally affected. Congenital giant megaureter (CGM), a very rare unilateral urinary anomaly; It is defined as "a ureter whose lumen is focal and segmentally dilated to more than 10 times the normal diameter" [15]. Here, a rare case of duplex anomaly in an infant is presented with its diagnostic challenges and management.
Background: Circumcision is the most common procedure in the neonatal period. PD was adopted for circumcision for a long time, and it underwent many modifications during the last decades. In this paper, we review retrospectively our practice in babies with isolated hooded prepuce that been circumcised with PD by using a new technique called (Traction and closure). Materials and methods: Between April 2019 and April 2021, 676 cases of circumcision were performed in the pediatric surgery clinic, 398 cases by Winkelmann clamp, and 289 done with Plastibell device. Five cases of hooded prepuce were detected on routine physical examination without hypospadias or meatal anomaly. These cases are characterized by deficient ventral preputial skin comparing to the dorsal preputial skin. All babies were in the neonatal period (less than one month of age) except for one who was 32 days old. The mean age of babies was 15.4 days. Circumcision was accomplished with PD by a new technique (Traction and closure). Results: Postoperatively no bleeding or urinary retention was noticed in all babies. Upon follow-up, all patients did not have slippage or retention of the ring where the ring fell smoothly over an expected time duration (7-11 days, mean: 9.25 days). Also, good favorable outcomes and parental satisfaction were both obtained in all cases. Conclusion: PD with technique (traction and closure) is a safe and suitable method for circumcision in babies diagnosed with an isolated hooded prepuce
Hydrometrocolpos is an uncommon congenital disorder consisting of cystic dilatation of the vagina and uterus, usually caused by distal obstruction. Many congenital urogenital malformations, ranging from persistent urogenital sinus to cloacal dysgenesis, may cause hydrometrocolpos. In obstructive, uterovaginal causes such as imperforate hymen, transverse vaginal septum are common etiologies. Early diagnosis in the antenatal ultrasound (USG) followed by fetal MRI is important, as this allows for early postnatal management and minimizes various secondary obstructive complications. We discuss hydrometrocolpos’ case associated with urogenital sinus and transverse vaginal septum diagnosed on antenatal USG and MRI scan and treated postnatally.
