Lingual Abscess in an Adult Patient With Pierre Robin Sequence: A Case Report.

A lingual abscess is a rare but serious infection within the tongue parenchyma, posing significant risks due to potential airway obstruction. Despite advancements in oral hygiene and antibiotics, timely diagnosis and treatment are critical to prevent severe complications. In this case, we report a 29-year-old male with Pierre Robin sequence (PRS) who presented with a four-day history of severe tongue pain, swelling, decreased appetite, and fever, without any reported trauma. Examination revealed left-sided tongue swelling, poor oral hygiene, and notable Mallampati III classification. A neck CT scan confirmed an abscess in the left hemitongue involving the intrinsic and mylohyoid muscles, measuring 26.5 x 30 x 30.5 mm with a volume of approximately 8 cc. Prompt intravenous antibiotic treatment was initiated, leading to spontaneous abscess drainage and significant clinical improvement. The patient was discharged after five days of intravenous antibiotics and continued oral antibiotics. At one-week follow-up, he was asymptomatic and fully recovered. This case underscores the importance of recognizing the potentially life-threatening nature of lingual abscesses, particularly in syndromic patients like those with PRS, who may experience quicker airway obstruction due to craniofacial abnormalities, such as micrognathia and glossoptosis. Given the rarity of such conditions, awareness and readiness to address these emergencies are essential for ensuring patient safety and positive outcomes.

Mucopolysaccharidosis Type VI with Recurrent Chest Infection.

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) is a progressive multi-systemic autosomal recessive disease resulting from a deficiency of arylsulfatase B (N-acetylgalactosamine-4-sulfatase). Here we report the case of a three-year-old male child born full-term via normal vaginal delivery. He had frequent admissions due to a chest infection that started at two months of age. At the age of 23 months, he was admitted after complaining of shortness of breath (SOB) due to asthma and aspiration pneumonia; additionally, dysmorphic features were noticed (single palmar crease, short round toes, coarse facial features such as a flat nose, big lips). A genetic study showed mucopolysaccharidosis VI (MPS VI). At three years of age, he was complaining of cough and SOB. Examination showed wheezing all over the chest, normal first and second heart sounds (S1 and S2), a murmur with no clicks, hepatosplenomegaly, and a palpable left kidney. However, the central nervous system (CNS) and eye examinations were normal. Echocardiography revealed a thickened bicuspid aortic valve, mild aortic regurgitation, and mitral regurgitation. Therefore, the patient presented with different clinical symptoms of MPS VI. It is important to increase the physicians' awareness about MPS by focusing on increasing the probability of MPS as a differential diagnosis whenever patients present with abnormal appearance, limb deformities, and recurrent unexplained infections; hence, making early diagnosis and treatment decisions, leading to a slowing down of the progression of the disease and enhancing the patient's quality of life.

Genetic Tumor Syndromes with Endocrine Involvement: A Compendium and an Update.

Many hereditary and sporadic tumor and other syndromes are associated with endocrine functional and or structural abnormalities. The last few decades have yielded advancements in the field with improvements in diagnostic testing, screening guidelines and novel treatment options. In general, endocrine functional abnormalities and neoplasms share an early age of onset. There remains room for improvement as limited literature exists regarding clinical course, prognosis, and screening for earlier cancer detection. This should allow for more timely intervention, and possibly improved outcomes. The aim of this article is to summarize the current knowledge about prevalence, clinical course, and prognosis of functional and structural pituitary, thyroid, adrenal, and gonadal abnormalities in patients with 17 known syndromic, mostly tumor-predisposing, diseases, wherever possible, we review screening recommendations.

Mutations in WDR4 as a new cause of Galloway-Mowat syndrome.

Galloway-Mowat syndrome (GAMOS) is a phenotypically heterogeneous disorder characterized by neurodevelopmental defects combined with renal-glomerular disease, manifesting with proteinuria. To identify additional monogenic disease causes, we here performed whole exome sequencing (WES), linkage analysis, and homozygosity mapping in three affected siblings of an Indian family with GAMOS. Applying established criteria for variant filtering, we identify a novel homozygous splice site mutation in the gene WDR4 as the likely disease-causing mutation in this family. In line with previous reports, we observe growth deficiency, microcephaly, developmental delay, and intellectual disability as phenotypic features resulting from WDR4 mutations. However, the newly identified allele additionally gives rise to proteinuria and nephrotic syndrome, a phenotype that was never reported in patients with WDR4 mutations. Our data thus expand the phenotypic spectrum of WDR4 mutations by demonstrating that, depending on the specific mutated allele, a renal phenotype may be present. This finding suggests that GAMOS may occupy a phenotypic spectrum with other microcephalic diseases. Furthermore, WDR4 is an additional example of a gene that encodes a tRNA modifying enzyme and gives rise to GAMOS, if mutated. Our findings thereby support the recent observation that, like neurons, podocytes of the renal glomerulus are particularly vulnerable to cellular defects resulting from altered tRNA modifications.

The primary cilium: guardian of organ development and homeostasis.

The primary cilium is an antenna-like organelle that plays a vital role in organ generation and maintenance. It protrudes from the cell surface where it receives signals from the surrounding environment and relays them into the cell. These signals are then integrated to give the required outputs in terms of proliferation, differentiation, migration and polarization that ultimately lead to organ development and homeostasis. Defects in cilia function underlie a wide range of diverse but related human developmental or degenerative diseases. Collectively known as ciliopathies, these disorders present with varying severity and multiple organ involvement. The appreciation of the medical importance of the primary cilium has stimulated a huge effort into studies of the underlying cellular mechanisms. These in turn have revealed that ciliopathies result not only from defective assembly or organization of the primary cilium, but also from impaired ciliary signaling. This special edition of Organogenesis contains a set of review articles that highlight the role of the primary cilium in organ development and homeostasis, much of which has been learnt from studies of the associated human diseases. Here, we provide an introductory overview of our current understanding of the structure and function of the cilium, with a focus on the signaling pathways that are coordinated by primary cilia to ensure proper organ generation and maintenance.