UNASSIGNED: Tuberous sclerosis complex is a genetic neurocutaneous autosomal dominant syndrome, characterized by the development of multiple benign tumors (hamartomas) affecting various systems. Heart-benign tumors that result from the complex are called cardiac rhabdomyomas. Unlike hamartomas that occur in other organs, cardiac rhabdomyomas are most prevalent in infants and very young children with tuberous sclerosis complex. We present a case of a young adult with tuberous sclerosis who had an unusually late diagnosis of cardiac rhabdomyomas.
UNASSIGNED: A 22-year-old male patient of Afro-descendant, diagnosed with tuberous sclerosis complex in childhood, presented with refractory epilepsy and was treated only with lacosamide. The patient came to medical consultation due to a recent history of episodic, persistent chest pain in the sternal region, associated with physical effort. Echocardiography revealed a non-dilated left ventricle, with several rounded masses of high echogenicity without pedicles at the apical level, the largest measuring 14 × 11 mm, consistent with cardiac rhabdomyomas.
UNASSIGNED: Cardiac rhabdomyomas rarely develop in adulthood for individuals with tuberous sclerosis. These late-onset cases can exhibit various symptoms, from simple to complex presentations. Regular clinical checkups are essential for adults with tuberous sclerosis complex.

BACKGROUND: Swyer-James-MacLeod syndrome (SJMS) is a rare lung condition characterized by a unilateral lung hyperlucency and reduction in the pulmonary vasculature, with or without the presence of bronchiectasis. In the 1950s, Swyer, James, and Macleod simultaneously characterized the syndrome for the first time. It is typically diagnosed in childhood. Adult-onset cases are extremely rare, with little literature available on its clinical presentation and diagnostic challenges. Swyer-James-MacLeod syndrome can mimic other lung disorders, resulting in misdiagnosis and improper treatment.
METHODS: A 49- year-old woman from Debre Berhan, Ethiopia, presented to the emergency department of Hakim Gizaw Teaching Hospital with symptoms and radiographic findings mimicking acute pulmonary embolism. On the basis of the clinical presentation and radiographic findings, the patient was first treated as a probable case of pulmonary embolism. Anticoagulant therapy and oxygen support were initiated. Nevertheless, additional testing using a chest computed tomography angiography revealed left lung hyperlucency, decreased vascularity, bronchiectasis, and a negative result for pulmonary embolism. As a result, Swyer-James-MacLeod syndrome was diagnosed.
CONCLUSIONS: The symptoms of Swyer-James-MacLeod syndrome can be mistaken for pulmonary embolism, which could lead to ineffective treatment and needless expenses. In individuals presenting with symptoms suggestive of pulmonary embolism, this case emphasizes the significance of considering Swyer-James-MacLeod syndrome as a differential diagnosis, especially in the absence of established risk factors for pulmonary embolism.

UNASSIGNED: Alexander disease is caused by mutations in GFAP, the glial fibrillary acidic protein gene. External laryngeal tremor has not been reported in adult-onset Alexander disease (AOAxD). The aims of this work were to report one such case and to review the literature on palatopharyngeal tremor and AOAxD.
UNASSIGNED: A 43-year-old man experienced involuntary movements at the front of his neck. Continuous, rhythmic vertical movements of the laryngeal skeleton, soft palate and tongue, and lower limb dysmetria were observed. The pathogenic GFAP variant c.994G>A; p.(Glu332Lys) was found. MRI demonstrated spinal cord and medulla oblongata atrophy and hyperintensities at the cerebellum and cerebral white matter.
UNASSIGNED: External laryngeal, palatopharyngeal tremor and cerebellar ataxia constituted a mild phenotype, as expected from this variant, herein reported in isolation for the third time. Imaging was consistent with AOAxD, including the so-called tadpole sign. Additional studies are necessary to define this infrequent disease.

Minimal change disease (MCD), typically linked with pediatric nephrotic syndrome, presents challenges in early identification and diagnosis in adult populations. This case report emphasizes the importance of tailored diagnostic and treatment approaches for adults with MCD. Our patient presented with fatigue, shortness of breath, and confusion, along with other symptoms leading to a renal biopsy which confirmed MCD. This highlights the diagnostic significance of kidney biopsy in adults. While steroids remain the standard treatment, challenges such as resistance and side effects lead to the consideration of alternatives like tacrolimus. There are nuanced differences between adult and pediatric MCD presentations, for which our study calls for increased awareness among physicians. Steroids are considered a first-line treatment for MCD, but prolonged use of steroids has significantly increased risk and alternative therapies should be considered. This study presents an example of MCD in adult populations, urging ongoing research for enhanced understanding and tailored management strategies. It emphasizes the pivotal role of physician awareness, alternative treatments, and continued investigation to improve outcomes for adults with MCD.

Myositis is a clinical condition with a wide spectrum of clinical presentation. We present the case of 33 years old woman with acute history of pain and swelling of both legs. Investigations confirmed acute bilateral myositis of both calf muscles. She responded well to conservative management with full recovery. Benign acute myositis is more common in children and usually follows viral infection. Although our case may represent an adult form of benign acute childhood myositis, she had no history of preceding infections. Benign acute myositis is increasingly reported in adults. It appears to be self-limited with spontaneous full recovery. The diagnosis is largely based on clinical features. Therefore, clinicians should be aware of this type of myositis to avoid unnecessary invasive investigations.

This abstract provides an overview of metachromatic leukodystrophy (MLD), an autosomal recessive disorder stemming from arylsulfatase A deficiency. MLD leads to cerebroside sulfate accumulation, causing central and peripheral demyelination. Clinical manifestations vary by age group: late-infantile (rapid progression), juvenile (slower progression), and adult-onset (psychiatric symptoms). A case study details a 23-year-old with progressive vision impairment, motor weakness, and cognitive changes. Examination and MRI findings led to suspicion of MLD, later confirmed by enzyme testing. Optic nerve involvement is emphasized, along with diagnostic criteria involving enzyme assays, imaging, and urinary sulfatide excretion tests. While no cure exists, symptomatic and supportive care, including hematopoietic stem cell transplantation, remains key in MLD management.

Langerhans cell histiocytosis (LCH), earlier recognised as histiocytosis X, is a rare haematological illness involving infants and young children. LCH is caused by unrestrained stimulation and proliferation of usual antigen presenting cells, Langerhans cells (LCs) and the disease demonstrates extensive clinical and radiographic features involving multiple sites. Since the incidence is relatively low limited data is available regarding the epidemiology of LCH, with approximation of 2-5 cases per million populations per year. LCH has male predilection with jaws involved in 10-20% cases and only 1% of the cases affecting maxilla, masquerading as periodontal or periapical pathology. We report a case of 48-year-old female with LCH involving posterior maxilla. This is a unique presentation corresponding to age, gender, location and severity. Dental clinicians should be aware of this and consider it to be a part of their differential diagnosis pertaining to unresolved periodontal pathology as it mimics clinically and radiographically.

This study describes a patient with progressive myoclonic epilepsy-11 (EPM-11), which follows autosomal dominant inheritance caused by a novel SEMA6B variant. Most patients develop this disease during infancy or adolescence with action myoclonus, generalized tonic-clonic seizures (GTCS), and progressive neurological deterioration. No cases of adult-onset EPM-11 have been reported yet. Here, we present one case of adult-onset EPM-11 who experienced gait instability, seizures, and cognitive impairment, and harbored a novel missense variant, c.432C>G (p.C144W). Our findings provide a foundation for a better understanding of the phenotypic and genotypic profiles of EPM-11. Further functional studies are recommended to elucidate the pathogenesis of this disease.

Deficiency of adenosine deaminase 2 (DADA2) is a rare monogenic disease caused by mutations in the adenosine deaminase 2 gene (ADA2). It is characterized by a wide range of manifestations, including systemic inflammation and vasculopathy, early onset stroke (ischemic or hemorrhagic), immunodeficiency, and bone marrow failure. The diagnosis of DADA2 is confirmed by pathogenic mutations in ADA2 or low ADA2 enzymatic activity in the patient. In this study, we present a case of a 24-year-old Saudi male who was admitted with symptomatic anemia, lightheadedness, exertional symptoms, and a history of fever (38.1 C) for one week. Laboratory tests revealed normocytic normochromic anemia, leucopenia, lymphopenia, and neutropenia-autoimmune profile: low C3 and positive anti-ds DNA. The genetic testing revealed two Pathogenic variants, which were identified in ADA2. The diagnosis of DADA2 was made, and the patient received subcutaneous adalimumab 40 mg every two weeks. At the follow-up after one month, he showed improvement in fever, rash, and C-reactive protein (CRP) from (6 to 0.65). In conclusion, we present one of the first cases in Saudi Arabia of an adult patient diagnosed with DADA2 with a unique gene mutation. Adult-onset patients with DADA2 usually have a vague presentation and a relatively narrower phenotype range of symptoms which produce additional challenges for the physician to add DADA2 to the list of differentials. We suggest further studies investigate the genotype-phenotype association, possible clinical presentation, and the development of curative treatments for those cases.

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