MUCOPOLYSACARIDOSIS TYPE IIIB MISDIAGNOSED AS AN AUTISTIC SPECTRUM DISORDER: A CASE REPORT AND LITERATURE REVIEW

ABSTRACT Objective: To report a rare case of mucopolysaccharidosis IIIB in a pediatric patient, with emphasis on the description of the clinical manifestations and the early diagnosis. Case description: A 14-year-old male patient, who presented regression of neuropsychomotor development since his three years and six months old, with speech loss and frequent falls, evolving with behavioral changes, with agitation and aggressiveness. Although being diagnosed with autism, there was no response to the established treatment; he was subsequently submitted to metabolic investigation, which lead to the diagnosis of Mucopolysaccharidosis IIIB. Comments: Identifying a metabolic disorder requires connecting multiple signs and symptoms, as well as eliminating other apparent causes. MPS IIIB is a diagnostic challenge, particularly in the early stages and in the absence of a family history of the disease.

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A Rare Case of Bilateral Incarcerated Obturator Hernias and a Right-Side Femoral Hernia

10.31487/j.jscr.2020.01.03 ◽

2020 ◽

pp. 1-3

Author(s):

Jinping Xu ◽

Ruth Wei ◽

Salieha Zaheer

Keyword(s):

Emergency Department ◽

Abdominal Pain ◽

Femoral Hernia ◽

Rare Case ◽

Hernia Recurrence ◽

High Morbidity ◽

Diagnostic Challenge ◽

Abdominal Ct ◽

Abdominal Ct Scan ◽

History Of

Obturator hernias are rare but pose a diagnostic challenge with relatively high morbidity and mortality. Our patient is an elderly, thin female with an initial evaluation concerning for gastroenteritis, and further evaluation revealed bilateral incarcerated obturator hernias, which confirmed postoperatively as well as a right femoral hernia. An 83-year-old female presented to the outpatient office initially with one-day history of diarrhea and one-week history of episodic colicky abdominal pain. She returned 4 weeks later with diarrhea resolved but worsening abdominal pain and left inner thigh pain while ambulating, without changes in appetite or nausea and vomiting. Abdominal CT scan then revealed bilateral obturator hernias. Patient then presented to the emergency department (ED) due to worsening pain, and subsequently underwent hernia repair. Intraoperatively, it was revealed that the patient had bilateral incarcerated obturator hernias and a right femoral hernia. All three hernias were repaired, and patient was discharged two days later. Patient remained well postoperatively, and 15-month CT of abdomen showed no hernia recurrence.

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Astroblastoma: a rare case report

Journal of Radiotherapy in Practice ◽

10.1017/s1460396915000485 ◽

2015 ◽

Vol 15 (1) ◽

pp. 107-110

Author(s):

Siddanna R. Palled ◽

Naveen Thimmaya ◽

Sugashwaran Jagadheesan ◽

Ibrahim Khaleel

Keyword(s):

Young Adults ◽

Case Report ◽

Rare Case ◽

Postoperative Radiotherapy ◽

Case Description ◽

Total Excision ◽

Rare Case Report ◽

Chief Complaints ◽

History Of ◽

The Right

AbstractBackgroundAn astroblastoma is a rare primary glial tumour occurring preferentially in young adults. It is characterised by a perivascular arrangement of tumour cells forming perivascular pseudorosettes mimicking ependymomas. The histogenesis of astroblastoma is unclear.Case descriptionWe present the history of a 13-year-old girl with chief complaints of headache associated with vomiting, blurring of vision on the left eye and a history of diplopia on the right eye. She underwent left parietal parasagittal craniotomy and near-total excision of tumour. She was planned for postoperative radiotherapy 5,940 cGy in 28 fractions along with concurrent temozolamide100 mg. She had no neurological deficit or complaints during her last visit.ConclusionAstroblastomas are a distinct clinic pathologic entity, with well-described radiologic, pathologic and cytogenetic features. Its recurrence is high, and efforts must be made to elucidate the role and usefulness of radiotherapy and chemotherapy in these tumours.

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Sinonasal Paraganglioma: A Case Report and Review of Literature

Clinical Rhinology An International Journal ◽

10.5005/jp-journals-10013-1204 ◽

2014 ◽

Vol 7 (2) ◽

pp. 87-89 ◽

Cited By ~ 2

Author(s):

Neelam Wadhwa ◽

PP Singh ◽

Vipin Arora ◽

Pankaj Verma ◽

Khyati Bhatia

Keyword(s):

Case Report ◽

Ct Scan ◽

Nasal Cavity ◽

Rare Case ◽

Surgical Excision ◽

Histopathological Diagnosis ◽

Rare Tumor ◽

Review Of Literature ◽

Diagnostic Challenge ◽

History Of

ABSTRACT A rare case of sinonasal paraganglioma is described. A 40-year-old female patient presented with 2 years history of unilateral nasal obstruction and bleeding. CT scan demonstrated an expansile enhancing mass involving bilateral ethmoids, right nasal cavity and right maxillary sinus. Histopathological diagnosis was neuroendocrine tumor with possibility of paraganglioma. A subtotal maxillectomy with excision of mass performed. Primary nonchromaffin paraganglioma of nose and paranasal sinus is a very rare tumor, these lesion pose diagnostic challenge to clinicians and pathologist. Only twenty five cases are reported in review of literature. Surgical excision is the mainstay of treatment. How to cite this article Arora V, Verma P, Singh PP, Wadhwa N, Bhatia K. Sinonasal Paraganglioma: A Case Report and Review of Literature. Clin Rhinol An Int J 2014;7(2):87-89.

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Severe primary hypothyroidism in an apparently asymptomatic 19-year-old woman: a case report

Journal of Medical Case Reports ◽

10.1186/s13256-021-02677-w ◽

2021 ◽

Vol 15 (1) ◽

Author(s):

Rania Dannan ◽

Sulaiman Hajji ◽

Khaled Aljenaee

Keyword(s):

Incidental Finding ◽

Clinical Manifestations ◽

Signs And Symptoms ◽

Thyroid Stimulating Hormone ◽

Primary Hypothyroidism ◽

Conflicting Evidence ◽

Thyroid Function Testing ◽

History Of ◽

Asymptomatic Individuals ◽

High Index Of Suspicion

Abstract Background Hypothyroidism is diagnosed on the basis of laboratory tests because of the lack of specificity of the typical clinical manifestations. There is conflicting evidence on screening for hypothyroidism. Case presentation We report a case of an apparently healthy 19-year-old Kuwaiti woman referred to our clinic with an incidental finding of extremely high thyroid-stimulating hormone (TSH), tested at the patient’s insistence as she had a strong family history of hypothyroidism. Despite no stated complaints, the patient presented typical symptoms and signs of hypothyroidism on evaluation. Thyroid function testing was repeated by using different assays, with similar results; ultrasound imaging of the thyroid showed a typical picture of thyroiditis. Treatment with levothyroxine alleviated symptoms and the patient later became biochemically euthyroid on treatment. Conclusion There is controversy regarding screening asymptomatic individuals for hypothyroidism; therefore, it is important to maintain a high index of suspicion when presented with mild signs and symptoms of hypothyroidism especially with certain ethnic groups, as they may be free of the classical symptoms of disease.

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Right Cerebellar Tuberculosis with Cranial Nerve Palsy in Pulmonary Tuberculosis Patient

Jurnal Respirasi ◽

10.20473/jr.v7-i.2.2021.65-69 ◽

2021 ◽

Vol 7 (2) ◽

pp. 65

Author(s):

I Komang Rusgi Yandi ◽

Isnin Anang Marhana

Keyword(s):

Young Adult ◽

Clinical Signs ◽

Clinical Manifestations ◽

Signs And Symptoms ◽

Tuberculosis Patient ◽

Public Health Issue ◽

High Morbidity ◽

Radiological Findings ◽

Blurred Vision ◽

History Of

Introduction: Tuberculosis (TB) is a major public health issue. The most devastating clinical manifestations of TB is Central nervous system (CNS) TB. CNS TB is found approximately in 1% of all patients with active TB, and cerebellar TB is rarely reported. CNS TB can present as meningitis, arachnoiditis, tuberculomas, or the uncommon forms of tuberculous subdural empyema and brain abscess.Case: A 23-year-old patient was reported in October 2018 with signs and symptoms of 2-month history of vertigo, headache, vomiting, weakness, fever, blurred vision, lingual palsy, dysmetria, and decrease of consciousness. The patient had a few months of history of cough, contact with a TB patient, his father, and loss of body weight. On admission, the patient had fever (38.50 C) and Glasgow coma score of 13.Discussion: CNS TB can occur in an immunocompromised patient with malnutrition, whether a child or young adult. The patient in this case had risk factors because he is a young adult and had contact with a patient of TB, his father. Based on epidemiology, clinical signs and symptoms, radiological findings, and the result of AFB-stained sputum, the patient was diagnosed with right cerebellar TB and PTB.Conclusion: The high morbidity and mortality characteristics of CNS TB are very important to note, thus the prompt diagnosis and therapy should be done. The specific therapy of ATD combined with surgery seems to provide a good result. The clinical and radiological findings were used as the evaluation of the medication.

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Rare Skeletal Complications in the Setting of Primary Hyperparathyroidism

Case Reports in Endocrinology ◽

10.1155/2015/139751 ◽

2015 ◽

Vol 2015 ◽

pp. 1-4 ◽

Cited By ~ 1

Author(s):

Nikos Sabanis ◽

Eleni Gavriilaki ◽

Eleni Paschou ◽

Asterios Kalaitzoglou ◽

Dimitrios Papanikolaou ◽

...

Keyword(s):

Clinical Manifestations ◽

Signs And Symptoms ◽

Holistic Approach ◽

Unique Case ◽

Skeletal Involvement ◽

Asymptomatic Patients ◽

Skeletal Complications ◽

History Of ◽

Recurrent Nephrolithiasis ◽

Previous Medical History

Parathyroid carcinoma represents an extremely rare neoplasm with diverse clinical manifestations which vary from asymptomatic patients to severe complications of hypercalcemia or parathyrotoxicosis while skeletal involvement is rather common. Herein we aimed at presenting a unique case of a young patient with rare aggressive skeletal complications of parathyroid cancer that initially were misdiagnosed. Ossification of the cervical ligamentum flavum and skull tumor illustrates erosive bonny lesions of hyperparathyroidism that in association with previous medical history of recurrent nephrolithiasis and biochemical findings guide the diagnosis. We suggest that increased awareness and holistic approach are needed in order to recognize and further investigate signs and symptoms of hyperparathyroidism.

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Isolated Lichen Planus of the Lip

International Journal of Immunopathology and Pharmacology ◽

10.1177/039463200702000321 ◽

2007 ◽

Vol 20 (3) ◽

pp. 631-635 ◽

Cited By ~ 4

Author(s):

M. Petruzzi ◽

M. De Benedittis ◽

L. Pasture ◽

G. Pannone ◽

F.R. Grassi ◽

...

Keyword(s):

Lichen Planus ◽

Topical Treatment ◽

Case Series ◽

Signs And Symptoms ◽

Diagnostic Challenge ◽

History Of ◽

Clinical Variants ◽

Oral Lichen ◽

Oral Involvement ◽

Carcinoma Risk

Oral lichen planus (OLP) is a relatively common disorder whose cause is still unknown. It occurs mostly on the buccal mucosa, but the gingivae, tongue, floor of the mouth and retromalar pads may also be affected. It rarely occurs on the lips and usually in association with oral lesions. We report a case series of ten patients with a history of isolated swelling of the lower and/or upper lip, erosions and crusting. General medical history, examination of the oral cavity and recording of signs and symptoms were carried out for each patient. Among the six different clinical variants of OLP described by Andreasen, the atrophic-erosive form was the most common in the course of isolated LP of the lip in our series. Five cases presented HCV hepatitis. A complete remission of lesions was observed in eight patients after topical treatment with clobetasol propionate 0.05% and tocopherol oil, while partial improvement was noted in those remaining. Isolated LP of the lip is unusual and presents a diagnostic challenge, however an appropriate differential diagnosis is fundamental. Lesions of the lips might represent a more or less precocious phase of oral involvement. Moreover the reasons for the unique localization on the lips need to be explored. Several variables, including age, duration of lesions, concomitance of other diseases, and genetic predisposition may be involved. Isolated LP of the lip is a well-known condition which responds well to topical treatment with corticosteroids. A thorough medical management and active early treatment are necessary to improve symptoms and might also be a relevant prevention strategy from squamous cell carcinoma risk, although data to fully support this statement still need investigation.

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Gluten Sensitivity Presenting as a Neuropsychiatric Disorder

Gastroenterology Research and Practice ◽

10.1155/2014/293206 ◽

2014 ◽

Vol 2014 ◽

pp. 1-6 ◽

Cited By ~ 19

Author(s):

Stephen J. Genuis ◽

Rebecca A. Lobo

Keyword(s):

Scientific Literature ◽

Clinical Manifestations ◽

Signs And Symptoms ◽

Sole Source ◽

Medical Community ◽

Gluten Sensitivity ◽

Gluten Free ◽

Neuropsychiatric Manifestations ◽

History Of ◽

Pathophysiologic Mechanisms

There has been increasing recognition in the medical community and the general public of the widespread prevalence of gluten sensitivity. Celiac disease (CD) was initially believed to be the sole source of this phenomenon. Signs and symptoms indicative of nonceliac gluten sensitivity (NCGS), in which classical serum and intestinal findings of CD may be absent, have been frequently reported of late. Clinical manifestations in patients with NCGS are characteristically triggered by gluten and are ameliorated or resolved within days to weeks of commencing a gluten-free diet. Emerging scientific literature contains several reports linking gluten sensitivity states with neuropsychiatric manifestations including autism, schizophrenia, and ataxia. A clinical review of gluten sensitivity is presented alongside a case illustrating the life-changing difference achieved by gluten elimination in a patient with a longstanding history of auditory and visual hallucinations. Physicians in clinical practice should routinely consider sensitivity issues as an etiological determinant of otherwise inexplicable symptoms. Pathophysiologic mechanisms to explain the multisystem symptomatology with gluten sensitivity are considered.

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A LINGUOVERTED IMPACTED TOOTH WITH OROCUTANEOUS FISTULA – A RARE CASE REPORT

Medicine and Pharmacy Reports ◽

10.15386/cjmed-945 ◽

2018 ◽

Vol 91 (4) ◽

pp. 479-483

Author(s):

Srikanth G ◽

Abhay T. Kamath ◽

Adarsh Kudva ◽

Anupam Singh ◽

Komal Smriti ◽

...

Keyword(s):

Rare Case ◽

Fistulous Tract ◽

Third Molar ◽

Signs And Symptoms ◽

Diagnostic Challenge ◽

Cutaneous Fistula ◽

Impacted Tooth ◽

Superficial Skin ◽

Rare Case Report ◽

Odontogenic Origin

The orocutaneous fistulous tract of odontogenic origin is often a diagnostic challenge, due to its rare manifestation and absence of dental signs and symptoms. The odontogenic cutaneous fistula is often misdiagnosed as a superficial skin lesion of non-odontogenic origin delaying the treatment. The diagnosis and treatment must be precise and swift to improve the clinical outcome and minimize the complications.This article presents a rare case of odontogenic keratocyst involving a linguoverted impacted third molar presenting as orocutaneous fistula. The patient was initially treated with empirical antibiotic therapy with no resolution of the cutaneous fistula and thickening of the skin around the sinus opening resulting in cosmetic deformity. Once the fistula was attributed to the underlying odontogenic cyst, treatment was done by cyst enucleation along with the extraction of tooth and fistula excision. The purpose of the paper is to emphasize the importance of early and accurate diagnosis and prompt management of the orocutaneous fistula due to the odontogenic origin.

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Ataxia telangiectasia: A diagnostic challenge. Case report

Case reports ◽

10.15446/cr.v6n2.83219 ◽

2020 ◽

Vol 6 (2) ◽

pp. 109-117

Author(s):

Natalia Martínez-Córdoba ◽

Eugenia Espinosa-García

Keyword(s):

Ataxia Telangiectasia ◽

Respiratory Infections ◽

Clinical Signs ◽

Clinical Manifestations ◽

Autosomal Recessive Disorder ◽

Signs And Symptoms ◽

Interdisciplinary Treatment ◽

Diagnostic Challenge ◽

Progressive Cerebellar Ataxia ◽

Repair Mechanisms

Introduction: Ataxia-telangiectasia (AT) is a neurodegenerative syndrome with low incidence and prevalence worldwide, which is caused by a mutation of the ATM gene. It is an autosomal recessive disorder that is associated with defective cell regeneration and DNA repair mechanisms. It is characterized by progressive cerebellar ataxia, abnormal eye movements, oculocutaneous telangiectasias and immunodeficiency. Early diagnosis is critical to initiate a timely interdisciplinary treatment, improve acute symptoms, and control the multiple comorbidities of the disease. The following is the case of a patient who presented with the aforementioned characteristics and had an adequate response to the established medical treatment.Case presentation: A 7-year-old female patient from Bogotá, who presented clinical signs of global neurodevelopmental delay, cerebelar ataxia, frequent respiratory infections and ocular telangiectasias. Symptoms were associated with elevation of alpha fetoprotein and immunodeficiency, which allowed for a diagnosis of AT and the initiation of a timely interdisciplinary treatment.Conclusion: AT is a chromosomal instability syndrome with characteristic signs and symptoms. It is essential to know the etiopathogenesis, clinical manifestations, diagnostic criteria, and therapeutic options, emphasizing that early detection and clinical suspicion could favor the proper management of the comorbidities and improve the progressive course of the disease.

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