Conservative Management of Ankyloglossia by Diode Laser: A Case Report

Ankyloglossia or tongue-tie is a congenital condition that results when the inferior lingual frenulum is too short and is attached to the tip of the tongue, limiting its normal movements. Ankyloglossia can lead to different problems such as difficulties in breastfeeding, speech impediments, poor oral hygiene, malocclusion, inability to deglutition, thus being an undesired problem in normal life activity. Among various methods of treatment of ankyloglossia, laser-assisted lingual frenotomy is the simplest, safest, and less traumatic with the most promising results. Here, a case of ankyloglossia and its management by frenotomy with diode laser is reported in a four-year-old female child. After performing partial frenectomy (frenotomy) using a diode laser of 980nm there was an immediate tongue protrusion and slight improvement of phonetics of the patient immediately and altogether improved after six months.

Coexistence of Neonatal Lupus Erythematous and Sturge–Weber Syndrome

Neonatal lupus erythematous (NLE) is a rare condition presented by lupus dermatitis shortly after birth or later following sun exposure. Sturge–Weber syndrome (SWS) is also an uncommon congenital condition characterized by extensive capillary malformation and ophthalmic and/or neurologic involvement. Here, we describe the first case of coexistence of NLE and SWS which posed a significant diagnostic challenge to clinicians.

A Case Report on Lateral Proboscis: A Rare Congenital Anomaly

Lateral proboscis is a rare congenital condition characterized by a cylindrical protuberance on the nasofrontal region accompanied by abnormal nasal development on the affected side. We aimed to describe the management of the lateral proboscis in staged repair. A 7-year-old girl came with a tube-like projection on the left medial canthal region and nasal agenesis on the ipsilateral side. She was diagnosed with lateral proboscis, left microphthalmia, lower eye lid coloboma, and asymmetry in the orbital region. The patient has undergone 3 major surgeries at our institution. The first surgery involved the deconstruction of the tube to form the left nasal body and nostril. The second operation involved trimming of the new nose form and the excision of the bony protrusion directly beneath the base of the pedicle through bifrontal craniotomy. The remaining bone defect was closed using a pericranial flap. The orbital floor was reconstructed using titanium mesh. The third operation involved nasal reconstruction using a costal cartilage graft to create a dorsal nasal and alar framework. The patient healed with no complications, had become less reserved and her grades improved significantly after the operation. Further appointments are being scheduled to evaluate growth distortion and the resulting facial asymmetry. Surgical correction will be planned thereafter to further reconstruct the facial features. Evaluation of patient is necessary to explore possible clinical outcomes and corresponding treatment options. Multidisciplinary management is highly recommended, involving plastic surgeons, neurosurgeons, ophthalmologists, pediatricians, and pediatric psychiatrists in order to improve patient's quality of life.

PERFORATED MECKEL’S DIVERTICULUM IN A YOUNG MALE PATIENT: A CASE REPORT

In this article we report the case of a 26-year-old boy suffering from perforation of Meckel's diverticulum (MD), a rare complication of the most common congenital anomaly of the gastrointestinal tract (1). This congenital condition can remain asymptomatic for a long time and sometimes it can get complicated with diverticulitis, formation of enteroliths, neoplasms and rarely perforation as in this case. A preoperative radiological assessment is of fundamental importance for a correct diagnostic and therapeutic management of the patient. In this article we show the typical tomographic imaging features of this infrequent complication, in order to help radiologists in detecting it.

A Case of Malignant Right Coronary Artery: Frequent Angina in Young Person

Highlight:A young adult has activity-triggered atypical chest pain and diagnosed malignant RCA.Congenital anomalies needed to be aware by cardiologists to help clinical practice.Planning a treatment about management of the CAAs condition should be undertaken by the inter-specialist team. Abstract:We presented a case a young adult with activity-triggered atypical chest pain and diagnosed with anomalous origin of right coronary artery (RCA) from the left coronary sinus with an interarterial course between the aorta and the main pulmonary artery that was detected by CT coronary angiography. This anomaly has been called malignant RCA. Coronary artery anomaly is a congenital condition. Most of the cases remain asymptomatic. This condition is also one of the most causes of sudden cardiac death, because the coronary artery examination is not regularly done. Nevertheless, during high intensity activity, it could be symptomatic and might be lethal. Diagnosing coronary artery anomalies might be tricky and cardiologists must be aware of this. The CAAs condition is a rare situation. The CAAs condition is associated with sudden death, especially intense physical activity. There was no rigid guideline for the management of the CAAs condition, so that planning a treatment in the inter-specialist team should be done.

Hypospadias treatment by tubulated pedicled preputial island flap according to the DUCKETT technique: single-center experience in sub-Saharan Africa

Background Hypospadias is the second most frequent congenital condition in boys after cryptorchidism, with an incidence of 0.3–0.7% compared to 2–4% for cryptorchidism. Since the 1980s, single-stage operations, such as the one described by Duckett, have been adopted by some authors. To assess the results of hypospadias surgery by tubed pedicled preputial island flap (DUCKETT’s procedure) in a West African reference hospital. Methods This is a retrospective and descriptive study that includes 41 patients with hypospadias who underwent DUCKETT procedure by a tubed pedicled preputial island flap during a period of 12 years. After penile degloving, the curvature has been corrected by skin bridging with or without Nesbit’s plication. The urethroplasty was done according to the DUCKETT procedure. Results The patients mean age was 11 ± 8.5 years. All of them had posterior foreskin and a ventral curvature of the penis. The urethral meatus was posterior in 37%. Six of them had a previous hypospadias repair. The complication rate was 58.5%. Wound infection and meatal stenosis occurred in 14.6% and 19.6% of cases, respectively. After a mean follow-up of 20 ± 9 months, total success, relative success and failure rates were 63%, 27% and 10%, respectively. Conclusion The DUCKETT procedure is associated with a high complication rate in our daily practice.

Case Report: Adult Right-Sided Bochdalek Hernia Complicated by Intrathoracic Bowel Perforation

Right-sided Bochdalek hernia is a mostly congenital condition of the diaphragm caused by a persistence of the pleuroperitoneal cavity and a rare disease in adults. As it often presents as an emergent situation, urgent diagnostics and surgical intervention are essential to reduce morbidity and mortality rates. Choosing the right surgical approach (abdominal, thoracic, or a combination of both) can be very challenging for clinicians. Here, we report a case of a 40-year-old woman, who presented with severe abdominal pain and tachypnoea. Imaging revealed a right-sided Bochdalek hernia. Emergency laparotomy was performed followed by reduction of hernia content, right-sided hemicolectomy, and side-to-side anastomosis from the ileum to the transverse colon due to intestinal ischemia and intrathoracic bowel perforation. The post-operative course was complicated by a pleural empyema. Therefore, the patient underwent thoracotomy. One year after surgical repair the patient had no recurrence. Here, we discuss feasible approaches for the surgical management of complicated Bochdalek hernias.

First Report of SYNE1 Arthrogryposis Multiplex Congenita From Saudi Arabia With a Novel Mutation: A Case Report

Introduction: Arthrogryposis multiplex congenita (AMC), is a rare congenital condition characterized by multiple joint contractures often affecting both arms and legs which start prior to birth.Patient concern: The pediatrician attending delivery noticed the baby being dysmorphic with generalized hypotonia and multiple joint contractures at birth with antenatal history of reduced fetal movement. The patient was admitted to the neonatal intensive care unit for strict observation and further work up.Diagnosis: Whole Exome Sequencing was performed and identified the novel homozygous variant in the synaptic nuclear envelope protein1 [SYNE1] gene.Intervention: Multidisciplinary team were involved in the management plan, supportive care was the mainstay of treatment.Outcomes: Due to feeding difficulties and on and off requirement of oxygen support, the patient remained hospitalized for a long period then was discharged home on supplemental oxygen and gastrostomy tube feeding.Conclusions: AMC3 should be suspected in patients with decreased fetal movements, dysmorphic features, hypotonia, and arthrogryposis. Molecular testing of the SYNE1 gene confirms diagnosis.

Association of ABCA4 Gene Polymorphisms with Cleft Lip with or without Cleft Palate in the Polish Population

Background: Non-syndromic cleft lip with/without cleft palate (NSCL/P) is a common congenital condition with a complex aetiology reflecting multiple genetic and environmental factors. Single nucleotide polymorphisms (SNPs) in ABCA4 have been associated with NSCL/P in several studies, although there are some inconsistent results. This study aimed to evaluate whether two SNPs in ABCA4, namely rs4147811 and rs560426, are associated with NSCL/P occurrence in the Polish population. Methods: The study included 627 participants: 209 paediatric patients with NSCL/P and 418 healthy newborn controls. DNA was isolated from the saliva of NSCL/P patients and from umbilical cord blood in the controls. Genotyping of rs4147811 and rs560426 was performed using quantitative PCR. Results: The rs4147811 (AG genotype) SNP in ABCA4 was associated with a decreased risk of NSCL/P (odds ratio (OR) 0.57; 95% confidence interval (CI) 0.39–0.84; p = 0.004), whereas the rs560426 (GG genotype) SNP was associated with an increased risk of NSCL/P (OR 2.13; 95% CI 1.31–3.48; p = 0.002). Limitations: This study—based on the correlation between single genetic variants and the occurrence of different phenotypes—might have limited power in detecting relevant, complex inheritance patterns. ORs are often low to moderate when investigating the association of single genes with the risk of a complex trait. Another limitation was the small number of available NSCL/P samples. Conclusions: The results suggest that genetic variations in ABCA4 are important risk markers of NSCL/P in the Polish population. Further investigation in a larger study group is warranted.

Computed tomography reveals hip dysplasia in the extinct Pleistocene saber-tooth cat Smilodon

Reconstructing the behavior of extinct species is challenging, particularly for those with no living analogues. However, damage preserved as paleopathologies on bone can record how an animal moved in life, potentially reflecting behavioral patterns. Here, we assess hypothesized etiologies of pathology in a pelvis and associated right femur of a Smilodon fatalis saber-toothed cat, one of the best-studied species from the Pleistocene-age Rancho La Brea asphalt seeps, California, USA, using visualization by computed tomography (CT). The pelvis exhibits massive destruction of the right hip socket that was interpreted, for nearly a century, to have developed from trauma and infection. CT imaging reveals instead that the pathological distortions characterize chronic remodeling that began at birth and led to degeneration of the joint over the animal’s life. These results suggest that this individual suffered from hip dysplasia, a congenital condition common in domestic dogs and cats. This individual reached adulthood but could not have hunted properly nor defended territory on its own, likely relying on a social group for feeding and protection. While extant social felids are rare, these fossils and others with similar pathologies are consistent with a spectrum of social strategies in Smilodon supported by a predominance of previous studies.