A 12-year-old boy with fever and weight loss.
Ontology highlight
ABSTRACT:
SUBMITTER: van Buuren A
PROVIDER: S-EPMC8448499 | biostudies-literature | 2021 Oct
REPOSITORIES: biostudies-literature
Publications
A 12-year-old boy with fever and weight loss.
van Buuren Asia A Villemain Olivier O Beaulieu Roland R Latino Giuseppe A GA
Paediatrics & child health 20201201 6
Similar Datasets
Project description:Melkersson-Rosenthal syndrome (MRS) is an uncommon granulomatous disease characterized by the triad of relapsing facial paralysis, orofacial swelling, and fissured tongue. Genital swelling in MRS is rarely reported. We presented the first case of complete MRS with genital swelling in a child. Biopsy examinations of both the child's lower lip and penis showed noncaseating granuloma and intralymphatic granuloma infiltration. No symptoms or signs of other systemic disease (Crohn's disease or sarcoidosis) were observed after 2 years of follow-up. Genetic screening for CARD15/NOD2 in this patient showed negative, which further confirmed the diagnosis of MRS. Eleven other cases of suspected complete or incomplete MRS with genitalia involved were reviewed. Our case emphasizes the specific clinical feature of MRS with genitalia involved, which was genetically different from Crohn's disease and could be an independent entity. Lymphatic obstruction is responsible for localized edema in MRS.
| S-EPMC4828388 | biostudies-literature
Project description:Takotsubo cardiomyopathy is characterized by acute and reversible severe left ventricular dysfunction due to intensive emotional or physical stress followed by catecholamine excess. Traditionally it is most common in postmenopausal women, whereas only few cases have been described in childhood. In our case a previously well 12-year-old boy presented with severe cardiogenic shock due to dramatically impaired left ventricular function requiring significant inotropic support and invasive mechanical ventilation. Interestingly, cardiac catheterization, myocardial tissue histology and biochemical laboratory tests did not yield a definitive diagnosis. As his cardiac function improved gradually within several days and deep sedation could be weaned, he was then found to suffer from hemiparesis and absence of protective airway reflexes on neurological examination during the weaning process. Subsequent brain imaging studies revealed a brainstem bleeding due to a fistulous arteriovenous malformation (AVM) appearing to be only a few days old. After endovascular coiling and subsequent microsurgical resection of the malformation, he recovered completely. Our present case demonstrated, that brainstem bleeding could precipitate Takotsubo cardiomyopathy manifesting hemodynamic collapse. Severe ventricular impairment has been described in many adults with subarachnoid hemorrhage; however, this condition is extremely rare among children. When severe cardiogenic shock is diagnosed, precipitating factors such as intracranial processes should be ruled out on a regular basis.
| S-EPMC8649596 | biostudies-literature
Project description:Differential diagnosis of chest pain in the pediatric population is important but can be challenging. A 12-year-old boy with Duchenne muscular dystrophy presented with chest pain, cardiac enzyme elevation, and convex ST elevations in the inferior leads with reciprocal ST depression in the anterior leads on electrocardiogram. Echocardiography on admission revealed normal left ventricular function. Suspecting acute myocardial infarction, we performed invasive coronary angiography, which revealed normal coronary arteries. A follow-up electrocardiogram showed an acute pericarditis pattern with concave ST elevations in most leads and PR depression, and follow-up echocardiography revealed global left ventricular dysfunction, suggestive of acute perimyocarditis. Ibuprofen was administered for acute pericarditis, and a continuous milrinone infusion was commenced for myocardial dysfunction. The chest pain improved by the next day, and the ST segment elevations normalized on day 4. Echocardiography on day 9 revealed improved left ventricular function. The patient was discharged on day 11, and he is doing well without chest pain through 12 months of follow-up. The last electrocardiogram showed normal sinus rhythm without ST change. Differential diagnosis of acute myocardial infarction and acute perimyocarditis is important for proper treatment strategies and the different prognoses of these two conditions.
| S-EPMC9184981 | biostudies-literature
Project description: Not available
| S-EPMC3735745 | biostudies-literature
Project description: Not available
| S-EPMC3707995 | biostudies-literature
Project description: Not available
| S-EPMC3796598 | biostudies-literature
Project description: Not available
| S-EPMC7129670 | biostudies-literature
Project description:Congenital Methemoglobinemia is a rare neurologic condition which can mimic other diseases such as epilepsy syndromes and leukodystrophies. The responsible gene, CYB5R3, is not typically included on commonly order neurologic and epilepsy panels. We recommend that laboratories include this gene on these tests which often precede larger-scale genetic studies.
| S-EPMC5771927 | biostudies-literature
Project description: Not available
| S-EPMC7924538 | biostudies-literature
Project description:IntroductionThe Gollop-Wolfgang Complex (GWC) was initially described by Gollop et al. and is a rare congenital limb anomaly disorder characterized by the association of distal bifid femur and tibial agenesis.Case presentationThis study presents a case of a 12-year-old boy with Gollop-Wolfgang Complex (GWC), a rare congenital limb anomaly disorder characterized by the association of distal bifid femur and tibial agenesis. The patient did not have any VACTERL abnormalities and had a normal level of intelligence. Examination revealed coxa valga in both hips and upper limbs on both sides, a shortened left leg with a palpable bony protuberance and absence of the patella, and a shortened right leg with a palpable fibula lateral to the knee and absent tibia with severe knee varus deformity on both sides. Both feet revealed equinovarus deformity with ectrodactyly. The patient underwent through-knee amputation and was fitted with two prostheses to provide enhanced functional support.Clinical discussionThe etiology of GWC is still unknown, but errors in the complex genetic control of limb development are believed to be related.ConclusionTreatment choice depends on the deformity type, with through-knee amputation recommended for cases with observed flexion contracture, bifid femur, and tibial hemimelia, followed by modern prosthesis fitting for optimal outcomes. This case illustrates the efficacy of this surgical management and highlights the need for ongoing follow-up care.
| S-EPMC10149289 | biostudies-literature