A Novel Mutation c.841C>T in COPA Syndrome of an 11-Year-Old Boy: A Case Report and Short Literature Review.
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SUBMITTER: Zeng J
PROVIDER: S-EPMC8654191 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Background Hypercalcemic crisis caused by primary hyperparathyroidism (PHPT) in pediatric patients is very rare, and appropriate treatment approach for this condition has not been well demonstrated. Here, we report a case of PHPT-induced hypercalcemic crisis in a boy. Case Description An 11-year-old boy visited the clinic with abdominal pain and nausea that lasted for 3 months, but the cause of his symptoms could not be identified. As these symptoms worsened after 1 month, he was referred to a nearby hospital. The boy’s albumin-corrected serum calcium level was very high (14.3 mg/dL). Treatment was immediately started with the administration of normal saline, furosemide, and calcitonin to lower his serum calcium levels. Based on elevated intact-parathyroid hormone (i-PTH) (405 pg/mL) level and enlargement of the right superior parathyroid on diagnostic imaging, he was diagnosed with hypercalcemic crisis due to PHPT. As his albumin-corrected serum calcium level increased to 16.5 mg/dL and he could not take almost any foods due to severe nausea, he was transferred to our hospital and treated with pamidronate. Although his albumin-corrected serum calcium level decreased to 14.0 mg/dL, his symptoms did not improve completely. Therefore, 2 days after transfer to our hospital, he underwent emergency surgery to resect the enlarged right superior parathyroid gland. Fifteen minutes after removal of the enlarged parathyroid gland, the serum intact-PTH level decreased to 41.7 pg/mL. The histopathological diagnosis of the enlarged parathyroid gland was adenoma. The boy became asymptomatic, and his albumin-corrected serum calcium level was maintained within the normal limits for 6 months post operatively. Genetic testing performed after the surgery did not detect any pathogenic mutations in the MEN1 and CDC73 genes, and no genetic predisposition has been identified to date. Conclusions Emergency focused parathyroidectomy prior to genetic testing might be an appropriate strategy when the pediatric patient presents with a PHPT-induced hypercalcemic crisis.
| S-EPMC9346224 | biostudies-literature
Project description:ObjectivePrimary hyperparathyroidism secondary to an ectopic parathyroid adenoma is rare among children and adolescents.MethodsWe describe the case of an 11-year-old girl with incidentally diagnosed primary hyperparathyroidism secondary to an intrathymic parathyroid adenoma and performed a review of the related literature.Results99mTechnetium sestamibi single-photon emission computerized tomography/computed tomography and 4-dimensional computed tomography confirmed the ectopic location of the adenoma. The patient underwent thoracoscopic thymectomy and remained normocalcemic with elevated parathyroid hormone showing a downward trend. Parathyroid hormone normalized 18 months after successful parathyroidectomy.ConclusionWe review the case of a rare mediastinal parathyroid adenoma in a pediatric patient and summarize the epidemiologic profile, diagnosis, and management of similar pediatric cases.
| S-EPMC8074671 | biostudies-literature
Project description:Longitudinal bone growth is primarily mediated by the growth plate, which is a specialized cartilaginous structure. Aggrecan, encoded by ACAN, is a primary proteoglycan component of the extracellular matrix in both the growth plate and articular cartilage. Aggrecanopathies have emerged as a phenotype of genetic skeletal disease in humans. A heterozygous ACAN mutation causes short stature, premature growth cessation, and accelerated bone age maturation. We report the case of a 15-year-old boy with familial short stature, with height of 149 cm (Korean standard deviation score [SDS] of -3.6) and weight of 50.5 kg (-1.48 SDS). He presented with mild midfacial hypoplasia, frontal bossing, a broad chest, and a short neck. The father's and mother's heights were 150 cm (-4.8 SDS) and 153 cm (-1.69 SDS), respectively. The patient's bone age was 2-3 years more advanced than his chronological age, and no endocrine abnormalities were detected. Wholeexome sequencing followed by Sanger sequencing revealed a heterozygous ACAN mutation, c.512C>T (p.Ala171Val), in both the proband and his father. Short stature is generally associated with a delayed bone age, and this case suggests that ACAN mutations may be the most likely etiology among patients with short stature and an advanced bone age and should warrant early treatment.
| S-EPMC7788345 | biostudies-literature
Project description:Serine/threonine protein kinases are involved in axon formation and neuronal polarization and have recently been implicated in autism spectrum disorder (ASD) and neurodevelopmental disorders (NDD). Here, we focus on BRSK2, which encodes brain-specific serine/threonine protein kinase 2. Although previous studies have reported 19 unrelated patients with BRSK2 pathogenic variation, only 15 of 19 patients have detailed clinical data. Therefore, more case reports are needed to enrich the phenotype associated with BRSK2 mutations. In this study, we report a novel de novo frameshift variant (c.442del, p.L148Cfs*39) identified by exome sequencing in a 16 year-old Chinese boy with ASD. The proband presented with attention-deficit, auditory hallucinations, limb tremor, and abnormal brain electrical activity mapping. This study expands the phenotypic spectrum of BRSK2-related cases and reveals the highly variable severity of disorders associated with BRSK2.
| S-EPMC10476520 | biostudies-literature
Project description:BackgroundCampylobacter jejuni is a common cause of acute gastroenteritis, but central nervous system infections are rare manifestations of Campylobacter infection. Therefore, C. jejuni trauma-related subdural hygroma infection in children is poorly described in the literature.Case presentationWe described a 2-year old boy with lobar holoprosencephaly presenting with subdural hygroma following head trauma. C. jejuni infection was confirmed from a subdural hygroma sample by culture as well as by DNA sequencing of a broad range 16S rDNA PCR product. Cerebrospinal fluid from the ventriculoperitoneal shunt remained sterile. Combined neurosurgical and antimicrobial treatment led to complete recovery. Review of the literature showed that the most common manifestation of Campylobacter central nervous system infection is meningitis, mostly in neonates, and subdural hygroma infection was described for only one case.ConclusionsSubdural hygroma infection caused by C. jejuni is a rare clinical condition in children. Molecular methods represent an important tool for the detection of rare or unexpected pathogens. No standard recommendations for antimicrobial treatment of C. jejuni subdural space infection in children are available, but meropenem treatment combined with surgery seems to be an effective approach.
| S-EPMC9392325 | biostudies-literature
Project description:Introduction:Prinzmetal's angina is a very rare disease in children and adolescents. Adults' studies suggest that vasospastic angina is more common in patients with bronchial asthma than in the general population. Case presentation:A 16-year-old boy with a history of bronchial asthma was admitted to the hospital after successful resuscitation from asystole. On the day of admission, he had a severe left shoulder pain and developed cardiac arrest. He was complaining of left shoulder pain throughout the previous year. During his hospital stay, a second cardiac arrest took place with inferior ST elevation of the electrocardiography recorded after the second successful resuscitation. Diagnostic coronary angiography revealed multiple spasms throughout the coronary bed, which was completely resolved after intracoronary nitroglycerine administration. The patient was diagnosed Printzmetal's vasospasic angina, and the symptoms disappeared gradually with up-titration of a calcium channel blocker and a nitrate. Discussion:Previous studies have suggested that the pathogenesis of Prinzmetal's vasospastic angina may be similar to that of bronchial asthma, as we see in the presentation of this young patient.
| S-EPMC6177102 | biostudies-literature
Project description:BackgroundAcromicric dysplasia is a rare heritable short-stature syndrome with joint stiffness and varying degrees of cutaneous hardness. Stiff skin syndrome is a rare connective tissue disorder characterized by diffusely thick and hard skin from the time of birth. Heterozygous point mutations in the FBN1 have been proposed as the predominant cause of both diseases.MethodsBy performing skin biopsy, X-ray imaging, electrocardiography, as well as whole-genome sequencing and Sanger sequencing, we diagnosed an 8-year-old Chinese boy as acromicric dysplasia with severe skin stiffness caused by a heterogeneous mutation in the FBN1.ResultsThe patient presented with skin tightness, wrist and ankle stiffness, short stature and limbs, several deformed joints in the extremities, cone-shaped epiphyses, and distinct facial features. He also had a patent foramen ovale and frequent respiratory infections. Skin biopsy showed thickened dermis and excessive collagen aggregation. Alcian blue staining indicated dermal mucopolysaccharide deposition. Mutation analysis revealed a heterozygous missense mutation, c.5243G>A (p.Cys1748Tyr), in exon 42 of the FBN1.ConclusionThis is a report about acromicric dysplasia with stiff skin syndrome-like severe cutaneous presentation caused by a single hotspot mutation, further revealing the gene pleiotropy of FBN1.
| S-EPMC7336748 | biostudies-literature
Project description:SHORT syndrome is a rare genetic congenital defects condition. The frequency of the disease still remains unknown.We report the two-year-four-month old female with SHORT syndrome who present growth retardation and dysmorphic features (triangular-shaped face, prominent forehead, ocular depression, lipodystrophy at the lumbar region and around elbows), consistent with the phenotype described for this syndrome. The molecular analysis showed the presence of heterozygous variant c.1956dupT (p.Lys653*) in exon 15 of PIK3R1.The frequency of the disease still remains unknown; solely several dozen cases have been described worldwide.
| S-EPMC5418728 | biostudies-literature
Project description:BackgroundThe co-existence of two genetically distinct metabolic disorders in the same patient has rarely been reported. Phenylketonuria (PKU) is an inborn error of the metabolism resulting from a phenylalanine hydroxylase deficiency. Fabry disease (FD) is an X-linked lysosomal storage disorder due to a deficiency of the enzyme alpha-galactosidase A.Case presentationWe report a case of a 3 year- old boy affected by classic PKU and FD, both confirmed by molecular data. The FD was suspected at the age of 21 months on the presence of non-specific GI symptoms (severe abdominal pain and periodically appearance of not specific episodes of gastroenteritis) apparently non related to PKU.ConclusionThis is the first report of co-existence of FD and PKU, two different congenital inborn of metabolism and in consideration of the prevalence of each disease this chance association is a very unusual event. The co-existence of this diseases made very difficult the correct interpretation of clinical symptoms as lack of appetite, severe abdominal pain and non-specific gastroenteritis episodes. Furthermore, this case report helps to define the early clinical phenotype of FD.
| S-EPMC2885380 | biostudies-literature
Project description:Keutel syndrome (KS) as a scarce autosomal recessive disorder is characterized by hearing loss, multiple peripheral pulmonary stenoses, abnormal cartilage calcification, and morphological defects including midface hypoplasia and brachytelephalangism. We herein describe a 5-year-old boy who was referred for the evaluation of incidentally auscultated heart murmurs. He had no obvious abnormalities at birth but suffered from recurrent episodes of infectious otitis media during infancy. Physical examination revealed facial abnormalities, such as a broad nasal bridge, a sloping forehead, maxillary hypoplasia, and brachytelephalangism. Chest radiography showed tracheobronchial tree calcification. Transthoracic echocardiography illustrated peripheral pulmonary artery stenosis, moderate tricuspid regurgitation, and pulmonary hypertension. Computed tomography angiography confirmed calcification and segmental stenosis in the peripheral pulmonary arteries. The patient was diagnosed with KS. Most of these patients have a good prognosis. During the follow-up of these patients and examinations, we should pay attention to their symptoms related to upper respiratory tract infections, the extent of hearing, and the possibility of tracheal and pulmonary artery stenosis development. KS is a disease with a good prognosis, and a careful initial examination of babies, including facial appearance and heart auscultation, may lead to the early diagnosis of this disease.
| S-EPMC10222938 | biostudies-literature