Importance of accurate diagnosis of congenital agenesis of the gallbladder from atypical gallbladder stone presentations:A case report

BACKGROUND Congenital agenesis of the gallbladder(CAGB)is a rare condition often misdiagnosed as cholecystolithiasis,leading to unnecessary surgeries.Accurate diagnosis and surgical exploration are crucial in patients with suspected CAGB or atypical gallbladder stone symptoms.Preoperative imaging,such as magnetic resonance cholangiopancreatography(MRCP),plays a vital role in confirming the diagnosis.Careful intraoperative dissection is necessary to avoid iatrogenic injuries and misdiagnosis.Multidisciplinary consultations and collaboration,along with the use of various diagnostic methods,can minimize associated risks.CASE SUMMARY We present the case of a 34-year-old female with suspected gallbladder stones,ultimately diagnosed with CAGB through surgical exploration.The patient underwent laparoscopic examination followed by open exploratory surgery,which confirmed absence of the gallbladder.Subsequent imaging studies supported the diagnosis.The patient received appropriate postoperative care and experienced a successful recovery.CONCLUSION This case highlights the rarity of CAGB and the importance of considering this condition in the differential diagnosis of patients with gallbladder stone symptoms.Accurate diagnosis using preoperative imaging,such as MRCP,is crucial to prevent unnecessary surgeries.Surgeons should exercise caution and conduct meticulous dissection during surgery to avoid iatrogenic injuries and ensure accurate diagnosis.Multidisciplinary collaboration and utilization of various diagnostic methods are essential to minimize the risk of misdiagnosis.Selection of the optimal treatment strategy should prioritize minimizing trauma and maintaining open communication with the patient and their family members.

Left Nostril Agenesis in a Fetus with VACTERL Association: A Case Report

VACTERL association represents a rare condition with a broad spectrum of coexisting congenital abnormalities. Although a multifactorial origin has been described, the etiology is still unclear. Prenatal diagnosis can be challenging, as specific characteristics may be difficult to be determined before birth. This case report describes the finding of multiple congenital abnormalities in a male fetus at 30 weeks of gestation. The most notable findings were the presence of duodenal stenosis, esophageal atresia with distal tracheoesophageal fistula (type 3), interatrial septal communication foramen ovale, and left nostril and choana agenesis. After birth and making a broad differential diagnosis, all these characteristics oriented the diagnosis towards the VACTERL association. To the best of our knowledge, no cases of VACTERL association and unilateral nostril and choana agenesis have been previously described.

Agenesis of the dorsal pancreas

During the last 100 years in medical literature,there are only 54 reports,including the report of Pasaoglu et al(World J Gastroenterol 2008;14:2915-2916),with clinical descriptions of agenesis of the dorsal pancreas in humans.Agenesis of the dorsal pancreas,a rare congenital pancreatic malformation,is associated with some other medical conditions such as hyperglycemia,abdominal pain,pancreatitis and a few other diseases.In approximately 50% of reported patients with this congenital malformation,hyperglycemia was demonstrated.Evaluation of hyperglycemia and diabetes mellitus in all patients with agenesis of the dorsal pancreas including description of fasting blood glucose,oral glucose tolerance test,glycated hemoglobin and medical treatment would be a future goal.Since autosomal dominant transmission has been suggested in single families,more family studies including imaging technologies with demonstration of the pancreatic duct system are needed for evaluation of this disease.With this letter to the editor,we aim to increase available information for the better understanding of this rare disease.

Internal carotid artery agenesis with stenosed intercavernous anastomosis:a case report

We report a rare case of internal carotid artery agenesis with stenosed intercavernous anastomosis. A 59-year- old male patient presented with a new infarction in the left basal ganglia. Magnetic resonance angiography and cerebral angiography showed that the right internal carotid artery disappeared from the origin to the foramen lacerum segment, and there was an anastomotic artery with severe stenosis passed through the floor of the sella and in front of the cavernous sinus. The right A1 segment of the anterior cerebral artery was absent and A2 segment was supplied by the normal contralateral internal carotid artery via the anterior communicating artery.

Agenesis of the dorsal pancreas

Developmental anomalies of the pancreas have been reported but dorsal pancreatic agenesis is an extremely rare entity. We report an asymptomatic 62-year-old woman with complete agenesis of the dorsal pancreas. Abdominal computed tomography (CT) revealed a normal pancreatic head, but pancreatic body and tail were not visualized. Magnetic resonance imaging (MRI) findings were similar to CT. At magnetic resonance cholangiopancreatography (MRCP), the major pancreatic duct was short and the dorsal pancreatic duct was not visualized. The final diagnosis was dorsal pancreatic agenesis.

Endometrial Carcinoma Arising in Didelphic Uterus Accompanied by Right Renal Agenesis： A Case Report

MüLLERIAN duct anomalies （MDA） are abnor- malities occurring in the müllerian duct due to abnormal development of the uterus, cervix and vagina. Reported prevalence of this malformation in general population was 4%-5%. But real figure may be greater because of unawareness of these diseases due to its asymptomatic nature.

Spinal Manipulation and Dynamic Neuromuscular Stabilization Care for a 4-Year-Old Patient with Agenesis of the Corpus Callosum

The purpose of this case study is to describe the chiropractic care of a 4-year-old male patient with agenesis of the corpus callosum. Methods: Chiropractic care plan consisted of weekly appointments with the inclusion of at-home exercises coupled with academic intervention of physical and occupational therapies and assistive gait devices. Functional changes were monitored via objective clinic findings, independent clinical examination, and parental observation. Results: Agitated flexion contracted non-weight bearing child with gastrointestinal dysfunction and developmentally shunted growth responds to co-managed chiropractic care. Focus on aiding structural balance helped improve the weight bearing movement and mobility, physical calmness and contentment, emotional and verbal communication, as well as gastointestinal function. Discussion: This therapeutic approach decreased aberrant posture and enhanced quality of life. Conclusion: Chiropractic care in combination with academic intervention improved this child’s postural abnormalities, attitude, and cognitive development warranting consideration in subsequent care investigation.

Tooth agenesis and craniofacial morphology in preorthodontic children with and without morphological deviations in the upper cervical spine

AIM: To analyze differences in prevalence and pattern of tooth agenesis and craniofacial morphology between non syndromic children with tooth agenesis with and without upper cervical spine morphological deviations and to analyze associations between craniofacial morphology and tooth agenesis in the two groups together. METHODS: One hundred and twenty-six pre-orthodontic children with tooth agenesis were divided into two groups with(19 children, mean age 11.9) and without(107 children, mean age 11.4) upper spine morphological deviations. Visual assessment of upper spine morphology and measurements of craniofacial morphology were performed on lateral cephalograms. Tooth agenesis was evaluated from orthopantomograms.RESULTS: No significant differences in tooth agenesis and craniofacial morphology were found between children with and without upper spine morphological deviations(2.2 ± 1.6 vs 1.94 ± 1.2, P > 0.05) but a tendency to a different tooth agenesis pattern were seen in children with morphological deviations in the upper spine. In the total group tooth agenesis was associated with the cranial base angle(n-s-ba, r = 0.23,P < 0.01), jaw angle(ML/RLar, r = 0.19, P < 0.05), mandibular inclination(NSL/ML, r =-0.21, P < 0.05), mandibular prognathia(s-n-pg, r = 0.25, P < 0.01), sagittal jaw relationship(ss-n-pg, r =-0.23, P < 0.5), overjet(r =-0.23, P < 0.05) and overbite(r =-0.25, P < 0.01). CONCLUSION: Etiology of tooth agenesis in children with upper spine morphological deviations was discussed. The results may be valuable for the early diagnosis and treatment planning of non syndromic children with tooth agenesis.

Second premolar agenesis is associated with mandibular form： a geometric morphometric analysis of mandibular cross-sections

The aim of this study was to compare mandibular form （i.e., size and shape） between patients with agenesis of the lower second premolar （P2） and a control group with no agenesis. Three hypotheses were tested： （H1） agenesis causes a change in mandibular morphology because of inadequate alveolar ridge development in the area of the missing tooth （mandibular plasticity）; （H2） agenesis is caused by spatial limitations within the mandible （dental plasticity）; and （H3） common genetic/ epigenetic factors cause agenesis and affect mandibular form （pleiotropy）. A geometric morphometric analysis was applied to cross-sectional images of computed tomography （CT） scans of three matched groups （n= 50 each）： （1） regularly erupted P2; （2） agenesis of P2 and the primary second molar in situ; and （3） agenesis of P2 and the primary second molar missing for 〉3 months. Cross-sections of the three areas of interest （first premolar, P2, first molar） were digitized with 23 landmarks and superimposed by a generalized Procrustes analysis. On average, the mandibular cross-sections were narrower and shorter in patients with P2 agenesis compared with that in the control group. Both agenesis groups featured a pronounced submandibular fossa. These differences extended at least one tooth beyond the agenesis-affected region. Taken together with the large interindividual variation that resulted in massively overlapping group distributions, these findings support genetic and/or epigenetic pleiotropy （H3） as the most likely origin of the observed covariation between mandibular form and odontogenesis. Clinically, reduced dimensions and greater variability of mandibular form, as well as a pronounced submandibular fossa, should be expected during the treatment planning of patients with P2 agenesis.

Unilateral congenital scrotal agenesis with ipsilateral cryptorchidism: A case report

BACKGROUND Congenital scrotal agenesis(CSA)is very rare.There are 11 cases of congenital scrotal agenesis or absence reported in the literature,most of which are bilateral and accompanied by cryptorchidism.Only two cases of which are unilateral scrotal agenesis and not accompanied by cryptorchidism.This is the first reported case of unilateral scrotal agenesis with cryptorchidism and scrotoplasty.CASE SUMMARY A 2-year-old boy was admitted to our hospital with left cryptorchidism and ipsilateral CSA.An innovative method was used in the patient where a scrotal skin pedicle from the right part of scrotal skin was transplanted to the left side.At the same time,descent orchiopexy was performed.At the 4-mo follow-up,the left testicle was located in the scrotum and the size and shape were normal.CONCLUSION For unilateral CSA with ipsilateral cryptorchidism,contralateral scrotal pedicle transplantation and descent orchiopexy appear to be a successful surgical option.

Giant mucinous cystic adenoma with pancreatic atrophy mimicking dorsal agenesis of the pancreas

Mucinous cystic adenoma(MCA) of the pancreas is a rare benign cystic tumor with ovarian-like stroma and lack of communication with the pancreatic ductal sys-tem. The ovarian tissue is incorporated from the left gonad within the dorsal pancreas during embryogen-esis. Consequently, congenital dorsal agenesis of the pancreas(DAP) cannot be associated with MCA. We report the case of a giant MCA associated with atro-phy of the dorsal pancreas mimicking complete DAP. Pancreato-magnetic resonance imaging failed to iden-tify the dorsal pancreas but the absence of diabetes mellitus and compression of the splenic vein with major tributaries rectified the diagnosis of secondary atrophy of the distal pancreas. Unusual proximal location of the cyst in the pancreas may have induced chronic obstruc-tion of both the dorsal pancreatic duct and the splenic vein, with secondary atrophy of the distal pancreas.

Hyperhidrosis of Central Hypogonadism Leading to Diagnosis of Shapiro Syndrome: Temperature Dysregulation, Hypothermia and Agenesis of the Corpus Callosum

Background: Central or hypothalamic hypogonadism as an initial manifestation of Shapiro Syndrome has not been described in the literature. Herein, we report first case in which initial presentation of central hypogonadism led to a confirmed diagnosis of Shapiro Syndrome during a casual evaluation of hypothalamic pituitary anatomy with MRI of brain. Case presentation: 53 year old Caucasian man was documented to manifest Central or hypogonadotropic hypogonadism following evaluation of excessive sweating episodes, lack of libido and erectile dysfunction for a duration of several years. Brain MRI performed for assessment of the etiology documented no pituitary abnormality. Instead agenesis of Corpus Callosum was noted. The subject had been hospitalized on many occasions at this and several other medical centers with hypothermia or hyperthermia without a documentation of a definite cause. Therefore, the diagnosis of Shapiro Syndrome was made. Conclusion: This report is the first documentation of subject manifesting central, more likely to be hypothalamic rather than hypogonadotropic hypogonadism in conjunction with Shapiro Syndrome.

Incidental Discovery of Sphenoid Sinuses Agenesis: A Report of Two Cases in Benin, West Africa

Sphenoid sinuses are carved into the body of the sphenoid bone. They are probably the most variably pneumatized structures of the skull. They begin their pneumatization at the age of three and finished at adolescence. Several anatomic variants of sphenoid sinuses have been described in the literature. The agenesis of sphenoid sinuses in adults is very rarely found. We report two incidental cases of sphenoid sinuses agenesis discovered on CT scan in Benin, West Africa.

Right Testicle Ectopy Associated with Left Renal Agenesis

Testicular ectopia is a rare genital malformation belonging to the spectrum of testicular migration abnormalities. Renal agenesis can be unilateral or bilateral, isolated or associated with other malformations (1/4 of renal agenesis is accompanied by genital malformations, and more often affects the left kidney. Few cases are reported in the literature. We report a case in a 28-year-old patient with ectopia of the right testicle in the suprapubic position associated with agenesis of the left kidney, and surgical management consisted of an orchiectomy, with good surgical results.

Isolated Right Pulmonary Agenesis in a 2-Month-Old Infant in the Pediatric Ward of Hospital of Mali

Introduction: Pulmonary agenesis is a rare congenital abnormality defined by the absence of parenchyma, bronchi and pulmonary vessels, frequently associated with other malformations. We describe a case of isolated right pulmonary agenesis diagnosed in the pediatric ward of the Mali Hospital. Clinical case: He was a month-old baby boy, born at term by cesarean section of a well-followed pregnancy. He was not resuscitated. He developed dyspnea after a cold. An emergency chest X-ray revealed a right opaque lung. He was referred to the hospital for the exploration of this opacity. At the entrance, it weighed 3910 g, size: 54 cm and the temperature was 36.9°C. He had a polypnea, an intercostal print. The sounds of the heart were diverted to the right. The rest of the clinical examination was without much particularity. The chest CT scan confirmed the right pulmonary agenesis. Abdominal and cardiac ultrasound was normal. A healing includes oxygenotherapy, serum glucose 10% minding 100 ml/ Kg/day and amoxicillin minding 100 mg/ Kg/day at 3 times by oral way. After 24 hours of treatment, we observed an improvement in dyspnea. On D2, he was weaned off oxygen and resumed feeding. Conclusion: Pulmonary agenesis is a rare congenital anomaly that is frequently associated with other malformations, thus making its prognosis poor. The search for malformative abnormalities should be systematic in right pulmonary agenesis.

Surgical Treatment of Tetralogy of Fallot with Pulmonary Valve Agenesis in a 22 Years Old Patient

Agenesis of pulmonary valve is a rare variant and severe form of Tetralogy of Fallot (ToF). The evolution is usually marked by respiratory and cardiac failure at early age, which needs early surgical correction. Uncorrected treatment of Tetralogy of Fallot diagnosed at adult age is infrequent and only few studies have been described. We present here a rare case of a 22 years old patient who presented with dyspnea since childhood. Subsequent investigations allowed diagnosis of treatment of Tetralogy of Fallot with agenesis of the pulmonary valve. Following the assessment, the patient underwent a surgical repair and the recovery was uneventful. The management of treatment of Tetralogy of Fallot with pulmonary valve agenesis in adult period remains complex, requiring different surgical techniques.

Reconstructive surgical management of cryptomenorrhoea because of complete vaginal agenesis

Background: The Vagina is a composite structure formed partly from the mullerian duct and partly from urogential sinus. Most of the patients with mullerian agenesis have small rudimentary uterus without any endometrial cavity, 7% - 8% may have functioning uterus. Case: A 15 years old girl admitted with primary amenorrhea, cyclical abdominal pain, hematometra and complete vaginal agenesis. Surgical correction is the mainstay of treatment in patients with functioning uterus and absent vagina. Vaginoplasty was done to reconstruct a neovagina using amnion graft and establish uterovaginal continuity. In this case we have used only perineal approach to dissect the neovagina and identify the cervix with formation of a patent drainage tract and adequate vaginal length of 9 cm. Conclusion: In rare cases of obstructed functioning uterus by complete vaginal agenesis, vaginoplasty effectively restores anatomy and function by an overall minimal operative morbidity. Human amnion provides excellent results in neovaginal reconstruction.

Gallbladder and cystic duct agenesis diagnosed laparoscopically

To the Editor:Anatomical variations of the biliary tree are not un-common but isolated agenesis of the gallbladder is rare,[1]with a reported incidence of 0.013%-0.075%.[2]Thisvariation remains undiagnosed since the patient is oftenasymptomatic.

Pentalogy of Cantrell with Sternum Agenesis—A Case Report

Introduction: Pentalogy of Cantrell is a rare disorder described by Cantrell in 1958 and characterized by heart anomalies, involving defects of the diaphragm, abdominal wall, supraumbilical region and pericardium. Methods: We report a case of the disease that presented with agenesis of the sternum and partial absence of costal cartilage, treated by a multi-disciplinary team. Results: The patient underwent median sternotomy. An enlarged heart, compromising the pulmonary trunk and the right ventricle, and a left superior vena cava were identified. The right atrium was opened and an interventricular communication of around 10 mm in diameter was seen through the tricuspid valve. Following the repair of the heart defects, chondroplasty and placement of biological mesh (Bioway of Gore) were performed. Conclusion: A Successful surgical treatment for Cantrell Syndrome includes correction of the cardiac malformation, a good repair of thoracoabdominal wall.

Mullerian Agenesis in One of the Non-Identical Twins: A Case Report and Literature Review

Mullerin agenesis also referred as mullerian aplasia, Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH) or vaginal agenesis is the congenital anomaly of vertical fusion defect of mullerian system resulting in variable abnormalities of female reproductive tract with normal functioning ovaries. It is second most common cause of primary amenorrhea after gonadal agenesis. The occurrence of mullerian agenesis in twins is very rare. We present the case of one of the non-identical twins, 22 years female, with primary amenorrhea. Her elder twin sister had a normal female reproductive system. In our case, diagnosis was supported by presence of definitive primary amenorrhea with well-developed secondary sexual characteristics. Normal physiological hormonal levels ruled out the ovarian or pituitary pathology. Imaging studies like ultrasonography and magnetic resonance imaging (MRI) provided additional confirmation.