ABSTRACT
Fibrodysplasia ossificans progressiva (FOP) is a rare and progressively debilitating disorder affecting 1 in 2 million individuals. It is characterized by the progressive ossification of soft tissues into ectopic bone and congenital malformations of the great toes. FOP leads to significant disability and can result in death due to thoracic insufficiency syndrome. These case reports examine the presentation, diagnosis, and management of FOP, highlighting the diagnostic challenges inherent in managing such rare conditions because of their unique clinical features. They underscore the need for increased awareness among healthcare practitioners to ensure early diagnosis and the implementation of effective management strategies.
ABSTRACT
We report the case of a 9-month-old female infant who presented with a history of enlarging chest wall mass secondary to a lipoblastoma with intrathoracic extension. The baby was successfully treated with a surgical resection. Chest wall lipoblastomas with intrathoracic extension are quite uncommon, with few reports available to date.
ABSTRACT
Congenital infantile fibrosarcoma is a rare malignant soft tissue tumor, accounting for less than 1%-2% of childhood cancers. Although it can arise from any body part, an abdominal wall origin is exceptionally rare. This case report presents a case of congenital infantile fibrosarcoma originating from the abdominal wall. To the best of our knowledge, this is only the second reported case of abdominal wall congenital infantile fibrosarcoma. Unlike adult fibrosarcoma, infantile fibrosarcoma has a good prognosis with less metastasis. Early diagnosis and management are critical for improving outcomes in such rare cases.
ABSTRACT
BACKGROUND: Diprosopus, or craniofacial duplication, is a rare entity that occurs in approximately 1 in 180,000 to 15 million live births. The degree of duplication varies from complete facial duplication to small facial structure duplication like the nose and eye. The cause of diprosopus is unknown though there are proposed factors. CASE PRESENTATION: Our African patient was a term 72 hours old female neonate who was referred to our center with impression of lower facial duplication with two oral cavity that are located side to side separated by large soft tissue, she also had flat nasal bridge with widely separated nostrils and widely spaced eyes. Besides the facial malformation she had multiple episodes of vomiting with aspiration. Her blood tests were normal. Precontract brain computed tomography (CT) scan confirmed partially duplicated mandible and maxilla, two oral cavity separated by large fatty tissue, brain tissue were well formed and the only abnormality was corpus callosum agenesis and interhemispheric lipoma. In her stay at hospital nasogastric tube (NG) tube feed was initiated and started with antibiotics for aspiration pneumonia. After 25th day the neonatal passed away with possible cause of death being respiratory failure. CONCLUSION: Craniofacial duplication is a very rare anomaly with only a few cases reported. Most of these patients are stillborn, even if they survive the prognosis is often poor. Early prenatal diagnosis is very important as termination of pregnancy can sometimes be considered an option.
Subject(s)
Face , Nose , Female , Humans , Infant, Newborn , Face/abnormalities , Mandible , Maxilla , MouthABSTRACT
In tuberculous patient, abnormal extrarenal production of 1.25-dihydroxyvitamin D3 by activated macrophages results in hypercalcemia. High calcium level associated with tuberculosis is frequent in adults with active pulmonary tuberculosis even though most patients are asymptomatic, while hypercalcemia in children due to disseminated tuberculosis is rare. Here, we described a case of a 5-year-old who presented with cough and right anterior chest swelling of two-month duration with an Erythrocyte Sedimentation Rate of 144mm/hour, and a high serum ionized calcium level of 1.46millimol/L. With the epidemiologically prevalence, clinical and radiological imaging findings the diagnosis of disseminated tuberculosis to lung, pleura, lymph node, liver and bone was made, and the child was started with the anti-tuberculosis treatment, hypercalcemia was attributed to the disseminated tuberculosis precipitated by high calcium meal intake and excessive sun exposure. Tuberculosis can be complicated with hypercalcemia; care must be taken in supplementing vitamin D and high calcium meals especially in high sun exposure geographic areas.
ABSTRACT
Hydatidosis is a parasitic disease caused by Echinococcus granulosus, which affects children in many different parts of the world. It commonly affects the lungs and the liver of the children. Brain hydatidosis is an extremely rare clinical condition in the pediatric population, presenting with non-specific symptoms and signs. The diagnosis of intracranial hydatid cysts can be established by brain magnetic resonance imaging and histopathological examination of the specimen. Here, we report an 8-year-old female child diagnosed with a temporoparietal brain hydatid cyst. Brain magnetic resonance imaging showed a thin-walled cystic lesion located in the right temporoparietal lobe with significant mass effect and midline shift, with no abnormal wall or solid enhancement, and no surrounding edema. The diagnosis of brain temporoparietal hydatid cyst was made radiologically. The patient was operated on and the cyst was completely removed without rupture. The removed cyst was sent for histopathological examination; the histological sections showed a laminated acellular cyst wall with a nucleated germinal layer and no protoscolices, and the diagnosis of temporoparietal brain hydatid cyst was confirmed. The patient had a smooth postoperative course, started albendazole therapy, and was discharged with improvement.
