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Article ; Online: The importance of imaging in tuberous sclerosis complex (tsc) in children

Kreshnike Dedushi, MD, PHD / Fjolla Hyseni, MD / Juna Musa, MD / Kristi Saliaj, MD / Valon Vokshi, MD / Ali Guy, MD, PhD / Atiq Bhatti, MD / Muhammad Tahir, MD / Jeton Shatri, MD, PhD / Bardha Dervishi, MD / Krenare Shabani, MD / Mentor Shatri, DMD

Radiology Case Reports, Vol 17, Iss 2, Pp 399-

Two cases

2022 Volume 403

Abstract: Tuberous sclerosis complex (TSC) is an inherited, multisystemic, hamartomatous neurocutaneous disorder, with an autosomal dominant inheritance pattern. It affects multiple organs, however the most susceptible ones include the brain, skin, kidneys, lungs, ...

Abstract	Tuberous sclerosis complex (TSC) is an inherited, multisystemic, hamartomatous neurocutaneous disorder, with an autosomal dominant inheritance pattern. It affects multiple organs, however the most susceptible ones include the brain, skin, kidneys, lungs, the retina, and the heart. TSC is characterized by considerable clinical heterogeneity. The majority of patients present with a constellation of clinical signs and symptoms, most prominently central nervous system manifestations including epilepsy, cognitive impairment and autism spectrum disorders, cutaneous, cardiac, renal and ophthalmic manifestations. Epilepsy affects 70% – 90% of patients, representing the primary neurological feature and 1 of the foremost clinical findings of the disorder. Cardiac rhabdomyomas are the most frequent cardiac manifestations, appearing as isolated or multiple lesions.Herein, we present 2 patients diagnosed with tuberous sclerosis. A 3-month-old male patient with cardiac rhabdomyomas and hypopigmented macules and a 19-month-old male patient with partial epilepsy and mild psychomotor retardation. As brain lesions represent some of the most prevalent clinical features and early onset seizures are associated with more severe cognitive, function delay, through this article we hope to emphasize the potential role MRI can play in the diagnostic workup of TSC, to ensure a more timely diagnosis, thus modifying the natural course of the disorder and its prognosis.
Keywords	Tuberous sclerosis ; Magnetic Resonance Imaging ; Epilepsy ; Rhabdomyoma ; Pediatrics ; Medical physics. Medical radiology. Nuclear medicine ; R895-920
Subject code	616 ; 610
Language	English
Publishing date	2022-02-01T00:00:00Z
Publisher	Elsevier
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Giant cholesterol granuloma of petrous apex

Ilir Ahmetgjekaj, PhD / Edlira Harizi, MD / Abdur Rahman, MD / Fjolla Hyseni, MD / Fareeha Nasir, MD / Arlind Decka, MD / Masum Rahman, MD / Kledisa Shemsi, MD / Kristi Saliaj, MD / Samar Akram, MD / Ina Kola, MD / Juna Musa, MD, MSc

Radiology Case Reports, Vol 17, Iss 4, Pp 1220-

2022 Volume 1224

Abstract: Cholesterol granulomas are chronic inflammatory lesions located primarily in the apex of the petrous part of the temporal bone. They are benign, tumor-like lesions, consisting of a cystic cavity filled with a chocolate-brown fluid and present as ... ...

Abstract	Cholesterol granulomas are chronic inflammatory lesions located primarily in the apex of the petrous part of the temporal bone. They are benign, tumor-like lesions, consisting of a cystic cavity filled with a chocolate-brown fluid and present as hyperintense masses on T1 and T2 sequences on MRI. The most common causes of cholesterol granulomas are chronic middle ear infections and traumas, explaining their prevalence in young to middle aged patients. Due to their progressively expanding nature, clinical presentation include vertigo, diplopia, tinnitus, hearing loss and seizures. Treatment of cholesterol granulomas consists of two different approaches: watch and wait or radical surgery to remove the granulomatous tissue. We present the case of a 38-year-old male patient who was admitted to the Neurology Clinic with complaints of loss of consciousness, headache, pain on the left side of the face and tinnitus in the left ear. These symptoms had been present for some time and gradually worsened in intensity and frequency. Initially after an EEG was performed, the patient showed signs of focal epilepsy and began treatment accordingly. Subsequently, a CT and an MRI of the head and neck were performed, which showed a large, well demarcated expansile mass within the left petrous apex, which was hyperintense on T1 and T2. Based on his clinical presentation and radiologic findings, a diagnosis of cholesterol granuloma was established. Through this case report we hope to emphasize the role imaging modalities play in the diagnosis and appropriate management of cholesterol granulomas.
Keywords	Cholesterol granuloma ; Congenital cyst ; MRI ; Mass ; Medical physics. Medical radiology. Nuclear medicine ; R895-920
Subject code	616
Language	English
Publishing date	2022-04-01T00:00:00Z
Publisher	Elsevier
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Popliteal vein aneurysm in a teenager with knee swelling

Juna Musa, MD, Msc / Masum Rahman, MD / Kristi Saliaj, MD / Abu Bakar Siddik, MD / Ronny Khadra / Ali Guy, clinical assisrant professor / Qemajl Aliu, MD / Kulsum Madani, MD / Ina Kola, MD / Elton Ceka, MD

Radiology Case Reports, Vol 16, Iss 6, Pp 1410-

2021 Volume 1419

Abstract: Primitive vein popliteal aneurysms are rare and potentially fatal vascular disorders. The most dangerous complications of popliteal vein aneurysms are thromboembolic events, mainly pulmonary embolisms, a life-threatening event that requires a timely ... ...

Abstract	Primitive vein popliteal aneurysms are rare and potentially fatal vascular disorders. The most dangerous complications of popliteal vein aneurysms are thromboembolic events, mainly pulmonary embolisms, a life-threatening event that requires a timely diagnosis and prompt management. As a treatable cause of recurrent pulmonary embolisms, their actual incidence is believed to be underestimated. Herein, we present a case report of a popliteal vein aneurysm in a previously healthy16-year old male, presenting with a swelling behind his left knee that causes minimal discomfort while walking. When feasible, early surgical repair of both symptomatic and asymptomatic popliteal venous aneurysms is advised, since they are associated with an ill-defined possibility of pulmonary embolism and mortality, if left untreated.
Keywords	Popliteal vein aneurysm ; Asymptomatic ; Pulmonary embolism ; Duplex ultrasound ; MRI angiography ; Medical physics. Medical radiology. Nuclear medicine ; R895-920
Language	English
Publishing date	2021-06-01T00:00:00Z
Publisher	Elsevier
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Artery of Percheron infarction

Juna Musa, MD Msc / Masum Rahman, MD / Ali Guy, Clinical assistant professore / Erisa Kola, MD / Angela Guy, MD / Fjolla Hyseni, MD / Anisa Cobo, MD / Kristi Saliaj, MD / Fiona Bushati, MD / Ilir Ahmetgjekaj, Phd

Radiology Case Reports, Vol 16, Iss 6, Pp 1271-

A case report and literature review

2021 Volume 1275

Abstract: The artery of Percheron (AOP) represents a rare anatomic variant of the posterior circulation. It is a solitary trunk that provides bilateral arterial supply to the rostral midbrain and paramedian thalamus. AOP infarction presentation varies, most often ... ...

Abstract	The artery of Percheron (AOP) represents a rare anatomic variant of the posterior circulation. It is a solitary trunk that provides bilateral arterial supply to the rostral midbrain and paramedian thalamus. AOP infarction presentation varies, most often presents with altered mental status, memory impairment, and supranuclear vertical gaze palsy. Diagnosis of the AOP infarct is most often missed in the initial CT scan. A majority of these diagnoses are made outside the window of thrombolytic treatment for ischemic stroke.We report a case of a 67-year old male with a history of well-managed diabetes mellitus type 2 and hypertension, presented in the ER sudden onset severe drowsiness. On a physical exam, we found left pupil dilation and left eye deviation. Initial CT scan showed no pathological changes. The diagnosis was made on the third day of hospitalization via an MRI. Our case highlights the unusual presentation and that an absence of evidence of AOP infarction in CT scan does not exclude its diagnosis. The artery of the Percheron infarct requires a comprehensive clinical and radiological examination.
Keywords	Infarction of the Percheron artery ; Paramedian arteries ; Bilateral infarction ; Diagnostic imaging ; Ischemic stroke ; Medical physics. Medical radiology. Nuclear medicine ; R895-920
Subject code	610
Language	English
Publishing date	2021-06-01T00:00:00Z
Publisher	Elsevier
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: A case report of Joubert syndrome with renal involvement and seizures in a neonate

Ilir Ahmetgjekaj, PhD / Masum Rahman, MD / Fjolla Hyseni, MD / Ali Guy / Kulsum Madani, MD / Kristi Saliaj, MD / Angela Guy, MD, PhD / Valon Vokshi / Ina Kola, MD / Juna Musa, MD, MSc

Radiology Case Reports, Vol 16, Iss 5, Pp 1075-

2021 Volume 1079

Abstract: Joubert Syndrome is a rare autosomal recessive genetic disorder characterized by a distinctive midbrain-hindbrain malformation that gives the appearance of “the molar tooth sign” on axial magnetic resonance imaging (MRI). Mutations in the implicated ... ...

Abstract	Joubert Syndrome is a rare autosomal recessive genetic disorder characterized by a distinctive midbrain-hindbrain malformation that gives the appearance of “the molar tooth sign” on axial magnetic resonance imaging (MRI). Mutations in the implicated genes, affect proteins integral to cellular structures like the primary cilium, basal bodies and centromeres, categorizing Joubert syndrome as a ciliopathy. The most common clinical manifestations include moderate to severe hypotonia in early infancy with ataxia developing later in life, abnormal breathing patterns (tachypnea, apnea), atypical eye movements, development delay and intellectual disabilities. Differential diagnosis between different ciliopathies is challenging due to the overlapping clinical features. French neurologist Marie Joubert was the first to describe the clinical findings in 1969 and later the disorder was named after her.In this report, we present the case of a newborn female patient who was admitted to the neonatal intensive care unit 12 hours after birth, presenting with dyspnea, cyanosis, signs of respiratory distress and seizures. During the course of her hospitalization elevated levels of urea and creatinine were detected and after an abdominal ultrasound and CT evaluation bilateral renal hyperplasia and polycystic kidney disease were discovered. An MRI of the head and neck revealed the presence of inferior vermis agenesis, with a medial crack in cerebellum, a partial dysgenesis of corpus callosum, an underlying and thicker cerebral peduncle, as well as the molar tooth sign suggesting a diagnosis of Joubert syndrome. The diagnosis was ultimately confirmed through molecular genetic testing. Through this case report, we hope to draw attention to this rare and elusive group of disorders and emphasize the value of a prompt diagnosis and a proactive and multidisciplinary approach in the management of these patients.
Keywords	Joubert syndrome ; ciliopathy ; CEP290 ; molar tooth sign ; MRI ; Medical physics. Medical radiology. Nuclear medicine ; R895-920
Subject code	610
Language	English
Publishing date	2021-05-01T00:00:00Z
Publisher	Elsevier
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Corrigendum to “Asymptomatic presentation of a congenital malformation of the portal vein with portosystemic shunt” [Radiol Case Rep 15 (2020) 2009-2014]

Juna Musa, MD / Kulsum Madani, MD / Kristi Saliaj, MD / Jason Cai, MD / Ali Guy, MD / Blerina Saraci, MD / Erisa Kola, MD / Fjolla Hyseni, MD / Samer Saadi, MD / Elton Ceka, MD

Radiology Case Reports, Vol 15, Iss 12, Pp 2718- (2020)

2020

Keywords	Medical physics. Medical radiology. Nuclear medicine ; R895-920
Language	English
Publishing date	2020-12-01T00:00:00Z
Publisher	Elsevier
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Asymptomatic presentation of a congenital malformation of the portal vein with portosystemic shunt

Juna Musa, MD / Kulsum Madani, MD / Kristi Saliaj, MD / Jason Cai, MD / Ali Guy, MD / Blerina Saraci, MD / Erisa Kola, MD / Elton Ceka, MD

Radiology Case Reports, Vol 15, Iss 10, Pp 2009-

2020 Volume 2014

Abstract: ABSTRACT: Malformations of the portal venous system consist of congenital and acquired anomalies. Congenital portosystemic shunts represent rare vascular developmental anomalies that allow partial or complete diversion of blood flow from the portal ... ...

Abstract	ABSTRACT: Malformations of the portal venous system consist of congenital and acquired anomalies. Congenital portosystemic shunts represent rare vascular developmental anomalies that allow partial or complete diversion of blood flow from the portal venous system to the systemic venous system, bypassing the liver. Congenital portosystemic shunts may be associated with malformations or congenital absence of the portal vein, and it was first described by John Abernethy in 1793. Most cases are diagnosed in early childhood, but some congenital shunts may remain asymptomatic and are encountered incidentally because of the widespread use of computed tomography and magnetic resonance imaging. In this report, we discuss the case of a 40-year-old female who presented to the Emergency Department with right upper quadrant pain, nausea, and vomiting. Clinical presentation and abdominal computed tomography angiography were consistent with the diagnosis of calculous cholecystitis and congenital absence of portal vein with intrahepatic portosystemic shunts. We discuss the importance of radiology in diagnosing such incidental malformations, coupled with a review of the current literature on this topic.
Keywords	Case report ; Congenital Anomalous Portal Vein ; Portosystemic Shunt ; Medical physics. Medical radiology. Nuclear medicine ; R895-920
Subject code	610
Language	English
Publishing date	2020-10-01T00:00:00Z
Publisher	Elsevier
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Ectopic thyroid tissue in the anterior mediastinum along with a normally located gland

Erisa Kola, MD / Arben Gjata, Professor / Ina Kola, MD / Ali Guy, Assistant prof / Juna Musa, MD, Msc / Valbona Biba, MD / Vladimir Filaj, MD / Edlira Horjeti, MD / Daniela Nakuci, MD / Anisa Cobo, MD / Kristi Saliaj, MD / Mehdi Alimehmeti, Professor

Radiology Case Reports, Vol 16, Iss 11, Pp 3191-

2021 Volume 3195

Abstract: Ectopic thyroid tissue is a rare developmental abnormality arising from an aberration in the normal migration of the thyroid gland, from the floor of the primitive foregut to its final position. It is usually asymptomatic, often being diagnosed as an ... ...

Abstract	Ectopic thyroid tissue is a rare developmental abnormality arising from an aberration in the normal migration of the thyroid gland, from the floor of the primitive foregut to its final position. It is usually asymptomatic, often being diagnosed as an incidental finding. However, it can present with symptoms of compression such as chest pain, cough, stridor, dysphagia, dyspnea and superior vena cava syndrome. Herein, we present the case of a 42-year-old male patient, presenting with dyspnea, chest pain and fatigue. Laboratory tests showed low serum levels of thyroid-stimulating hormone (TSH) and a thoracic computed tomography revealed a heterogeneous mass in the anterior mediastinum. The patient underwent a full surgical resection. The postoperative histopathological examination of the mass demonstrated the presence of benign ectopic thyroid tissue with no evidence of malignancy. This case report emphasizes the importance of taking Ectopic thyroid tissue into account when considering the differential diagnosis of a mediastinal mass, as other common diagnoses including lymphomas, dermoid cysts and thymic tumors, require an entirely distinct treatment approach.
Keywords	Thyroid disgenesis ; Anterio mediastinum ; Lingual thyroid ; Ectopic thyroid tissue ; Malignant transformation ; Medical physics. Medical radiology. Nuclear medicine ; R895-920
Subject code	630 ; 610
Language	English
Publishing date	2021-11-01T00:00:00Z
Publisher	Elsevier
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Multifocal Langerhans cell histiocytosis in a child

Juna Musa, MD, MSc / Abu Bakar Siddik, MD / Ilir Ahmetgjekaj, MD, PhD / Masum Rahman, MD / Ali Guy, MD / Abdur Rahman, MD / Samar Ikram, MD / Erisa Kola, MD / Valon Vokshi, MD / Eram Ahsan, MD / Kristi Saliaj, MD / Fjolla Hyseni, MD, PhD

Radiology Case Reports, Vol 16, Iss 9, Pp 2726-

2021 Volume 2730

Abstract: Langerhans Cell Histiocytosis (LCH) is a rare disorder sometimes called the disorder of the “monocyte-macrophage system”. This condition is characterized by the proliferation of abnormal Langerhans cells within different tissues. Skin rash is the typical ...

Abstract	Langerhans Cell Histiocytosis (LCH) is a rare disorder sometimes called the disorder of the “monocyte-macrophage system”. This condition is characterized by the proliferation of abnormal Langerhans cells within different tissues. Skin rash is the typical early feature, but bony involvement is the second most common presentation. The most common complications are musculoskeletal disabilities, hearing problems, skin scarring, neuropsychiatric defects and most importantly, progression to secondary malignancies like leukemia. Early recognition and treatment can reduce morbidity and mortality. Herein, we report a case of a 10-year-old male presenting with a tender, palpable mass in the lower limb. On initial imaging, a lesion involving the diaphysis of the fibula was observed, raising concerns of Ewing sarcoma. Biopsy was planned along with whole-body MRI, revealing multifocal single system Langerhans cell histiocytosis. Given the rarity of fibular involvement in LCH, distinguishing between LCH and common malignancies within this age-group can be challenging. Through this case report, we hope to emphasize the importance of considering LCH in the differential diagnosis to ensure a timely diagnosis, fitting treatment and improvement in prognosis of the condition.
Keywords	Histiocytosis ; Langerhans cell ; Ewing's Sarcoma ; Surgery ; Bone tumor ; Medical physics. Medical radiology. Nuclear medicine ; R895-920
Subject code	616
Language	English
Publishing date	2021-09-01T00:00:00Z
Publisher	Elsevier
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Silent Moyamoya disease - A rare case report

Juna Musa, MD Mcs / Masum Rahman, MD / Ali Guy, Clinical assistant professor / Angela Guy, PHD candidate / Kristi Saliaj, MD / Abu Bakar Siddik, MD / Fjolla Hyseni, MD / Ketjana Elezi, Pharmacist / Ina Kola, MD / Anisa Cobo, MD / Ilir Ahmetgjekaj, PhD.

Radiology Case Reports, Vol 16, Iss 6, Pp 1368-

2021 Volume 1373

Abstract: Moyamoya is a rare cerebrovascular disorder marked by chronic, gradual blockage of the circle of Willis arteries, leading to characteristic collateral vessels, specifically cerebral angiography. The disease can develop in children and adults, although ... ...

Abstract	Moyamoya is a rare cerebrovascular disorder marked by chronic, gradual blockage of the circle of Willis arteries, leading to characteristic collateral vessels, specifically cerebral angiography. The disease can develop in children and adults, although there are different clinical characteristics. Moyamoya disease occurs mainly in Japanese people but has been reported in all races of varying age distributions and clinical features. As a reason, Moyamoya disease has been under-recognized as a cause of hemorrhagic and ischemic strokes in Western nations. There is no proven solution at this time, and there is debate over current care methods. The authors identify a case of a 40-year-old male with a small subcutaneous nevus-like mass in his left orbit who was diagnosed with Moyamoya disease.
Keywords	Cerebrovascular arteriopathy ; Moyamoya syndrome ; Ischemic stroke ; Cerebral ; Angiography ; Radiological findings ; Medical physics. Medical radiology. Nuclear medicine ; R895-920
Subject code	610
Language	English
Publishing date	2021-06-01T00:00:00Z
Publisher	Elsevier
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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