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Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation.

ABSTRACT: UNLABELLED:Fucosidosis is a rare lysosomal storage disease with clinical presentation of developmental retardation, coarse facial features, hepatosplenomegaly, dysostosis multiplex, and angiokeratomas. Here, a 7-year-old female patient with progressive dystonic movement disorder and loss of acquired motor skills is presented. Coarse facial feature and abnormal globuspallidus signaling in brain magnetic resonance imaging (MRI) led the patient to be investigated in terms of fucosidosis despite absence of hepatosplenomegaly, dysostosis multiplex, and angiokeratomas. Markedly decreased enzyme activity of alpha-fucosidosis led to the correct diagnosis. CONCLUSION:Various neurological findings have recently been reported in fucosidosis. However, neuroimaging findings have not been studied in detail except a few studies. It is critically important to discuss the wide neuroradiological spectrum of the disease and to highlight fucosidosis in differential diagnosis of bilateral pallidalhypointensity on T2-weighted images in brain MRI. In addition, description of atypical clinical findings of fucosidosis should avoid clinicians from diagnostic delay.

SUBMITTER: Zubarioglu T

PROVIDER: S-EPMC4683895 | biostudies-literature | 2015 Oct-Dec

REPOSITORIES: biostudies-literature

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Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation.

Zubarioglu Tanyel T Kiykim Ertugrul E Zeybek Cigdem Aktuglu CA Cansever Mehmet Serif MS Benbir Gulcin G Aydin Ahmet A Yalcinkaya Cengiz C

Annals of Indian Academy of Neurology 20151001 4

<h4>Unlabelled</h4>Fucosidosis is a rare lysosomal storage disease with clinical presentation of developmental retardation, coarse facial features, hepatosplenomegaly, dysostosis multiplex, and angiokeratomas. Here, a 7-year-old female patient with progressive dystonic movement disorder and loss of acquired motor skills is presented. Coarse facial feature and abnormal globuspallidus signaling in brain magnetic resonance imaging (MRI) led the patient to be investigated in terms of fucosidosis des ...[more]

PMID: 26713028

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Project description:Introduction Retinoblastoma (Rb), the most common intraocular malignancy of children, typically presents with leukocoria or strabismus, and in later stages, the most common sign may be proptosis. Radiological techniques show calcification as an important finding for the diagnoses. This neoplasm can mimic any orbital or ocular disease in its atypical clinical/radiological presentations, which delay the diagnosis leading to high mortality rates. Case presentation Here we report a case of a 4-year-old male child who presented to our hospital with ocular pain, edema, and inflammatory signs in the right eye, with no calcification. Clinical examination and radiological techniques suggested a broad spectrum of differential diagnoses, including orbital Inflammatory pseudotumor. The patient received intravenous fluids and antibiotic therapy, while awaiting further investigations. He was kept under observation status for days and discharged home with a stable condition. After 6 months, He developed severe painful proptosis with a large extraocular mass. Orbital magnetic resonance imaging showed an orbital mass extending outside the orbit in a non-functional eye. Therefore, right eye exenteration was performed, and pathologic examination revealed the diagnosis of Rb. Adjuvant chemotherapy was applied postoperatively. After 3 months of progressive decline because of distant multiple metastases, the patient died. Clinical discussion & conclusion Rb must be considered in the differential diagnosis for any intraocular disease, due to the importance of early diagnosis and management. In this manuscript, we aimed to present a case of Rb with atypical symptoms including ocular pain, edema, inflammatory signs, then proptosis, with no finding of calcification in a Syrian child, highlighting a bunch of educational lessons for healthcare workers in developing countries. Highlights • At early stages of Retinoblastoma (Rb), most patients present with leukocoria and strabismus. At later stages, patients may exhibit proptosis, buphthalmos, or hypopyon.• Patients also might be asymptomatic, or rarely with atypical presentations in advanced cases, including any orbital or ocular disease.• Retinoblastoma (Rb) must be considered in the differential diagnosis for any intraocular disease, due to the importance of early diagnosis and management.• Retinoblastoma (Rb) may lead to a diagnostic dilemma ends with death especially in developing countries.• The management should be a team approach by the parents, pediatric oncologists, ophthalmologists, and radiologists.

Project description:Key summary points Aim To assess the magnitude of the infection in residents from—and staff working in—a long-term-care facility (LTCF) 7 days after the identification of one resident with confirmed COVID-19 infection and the clinical presentation of the infected residents. Findings Two weeks after the first case, 50.9% of residents and 27.5% of the workers were tested positive for SARS-CoV-2. Diarrhea, fall, delirium, and hypothermia can be initial symptoms of COVID-19 in LTCF residents. Message The rapid dissemination of a COVID-19 infection in a LTCF may be due to a delay in the diagnosis of the first case, whose presentation could be atypical in residents. Purpose To assess the magnitude of the infection in residents from—and staff working in—a long-term-care facility (LTCF) 7 days after the identification of one resident with confirmed COVID-19 infection and to assess the clinical presentation of the infected residents. Methods All residents and staff members of a LTCF were tested for SARS-CoV-2 by real-time reverse-transcriptase polymerase chain reaction on nasopharyngeal swab. Residents were studied clinically 4 weeks after the first COVID diagnosis. Results Thirty-eight of the 79 residents (48.1%) tested positive for SARS-CoV-2. Respiratory symptoms were preceded by diarrhea (26.3%), a fall (18.4%), fluctuating temperature with hypothermia (34.2%) and delirium in one resident. Respiratory symptoms, including cough and oxygen desaturation, appeared after those initial symptoms or as the first sign in 36.8% and 52.2%, respectively. At any time of the disease, fever was observed in 65.8%. Twelve deaths occurred among the COVID-19 residents. Among the 41 residents negative for SARS-CoV-2, symptoms included cough (21.9%), diarrhea (7.3%), fever (21.9%), hypothermia (9.7%), and transient hypoxemia (9.8%). No deaths were observed in this group. 27.5% of the workers were also COVID-19 positive. Conclusion The rapid dissemination of the COVID-19 infection may be explained by the delay in the diagnosis of the first cases due to atypical presentation. Early recognition of symptoms compatible with COVID-19 may help to diagnose COVID-19 residents earlier and test for SARS-CoV-2 symptomatic and asymptomatic staff and residents earlier to implement appropriate infection control practices.

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Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation.

Publications

Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation.

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