scholarly journals Subcutaneous Calcification and Fixed Flexion Deformity of the Right Elbow Joint in a Child with a GNAS Mutation, the First Case Report

2021 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Hussain Alsaffar ◽  
Najya Attia ◽  
Senthil Senniappan
Keyword(s):  
Case Report ◽  
Parathyroid Hormone ◽  
Elbow Joint ◽  
Flexion Deformity ◽  
First Case ◽  
History Of ◽  
The Right ◽  
Subcutaneous Calcification ◽  
Gnas Mutation ◽  
Fixed Flexion Deformity

Introduction: The art of medicine glorifies when a clinician listens carefully to the patient’s story, gives a thorough examination, performs appropriate investigations, and finally links findings together to reach a definite diagnosis. An interesting case was reported here, highlighting the integration of different symptoms and manifestations with some relevant biochemical investigations to reach a final diagnosis. To the best of our knowledge, fixed flexion deformity, as a complication of subcutaneous calcification, has not been previously reported in a child with Albright hereditary osteodystrophy (AHO). Case Presentation: A 2.5-year-old boy was born at term with a birth weight of 3.5 kg (-0.49 SDS). The child was referred to a general pediatrician with a history of right elbow joint swelling noticed initially at six months of age. He then developed the limitation of right upper arm movement, which slowly progressed afterward. The patient had no history of trauma. At nine months of age, he was diagnosed with hypothyroidism, preceded by cold skin, dry hair, and constipation. At nine years of age, he presented with a fixed flexion deformity of the right elbow, associated with markedly limited joint movement and symmetrical hands with hyperpigmented knuckles of right metacarpal bones. Subcutaneous masses were felt along the right forearm, showing tenderness on palpation. Investigations revealed elevated serum parathyroid hormone and normal calcium, indicating parathyroid hormone resistance. Further genetic testing revealed GNAS mutation. The child was obese throughout his childhood. Conclusions: This case report describes an obese child with subcutaneous calcification that led to fixed flexion deformity of the elbow, starting at an incredibly early age. Hypothyroidism and pseudohypoparathyroidism raised the suspicion of AHO, which was later confirmed by genetic testing. This is the first case report on fixed flexion deformity in a patient with GNAS mutation (c.719-1G > A Chr20: 57484737) in West Asia.

scholarly journals Polylactic Acid Implant for Cranioplasty with 3-dimensional Printing Customization: A Case Report

2020 ◽  
Vol 8 (C) ◽  
pp. 151-155
Author(s):  
Tedy Apriawan ◽  
Khrisna Rangga Permana ◽  
Ditto Darlan ◽  
Muhammad Reza Arifianto ◽  
Fitra Fitra ◽  
...  
Keyword(s):  
Case Report ◽  
3D Printing ◽  
Polylactic Acid ◽  
Cost Effective ◽  
Skull Defect ◽  
3 Dimensional ◽  
First Case ◽  
Good Cosmetic ◽  
History Of ◽  
The Right

BACKGROUND: Cranioplasty is aimed to restore the structure and function of the lost portion of the skull defect. Many materials can be used for cranioplasty, such as the bones of the patient (autograft), the bones of other patients (allograft), bones of animals (xenograft), or synthetic materials such as acrylic or titanium mesh. These materials are quite expensive and sometimes require complex processes. Manual shaping of material for cranioplasty is also quite time-consuming and prone to cause esthetic dissatisfaction. The author will discuss the case of using polylactic acid (PLA) implant with 3-dimensional (3D) printing customization as a cheap and accurate cosmetic solution for cranioplasty procedures. CASE REPORT: We report 2 cases of skull defect underwent cranioplasty. The first case, female, 20-year-old, had a history of severe traumatic brain injury (TBI) and epidural hematoma. She underwent decompression craniotomy on the left frontotemporoparietal region of her skull. The second case, male, 46-year-old, had a history of spontaneous intracerebral hemorrhage due to arteriovenous malformation (AVM). He underwent decompression craniotomy on the right frontotemporoparietal region of her skull. Both the data of computerized tomography (CT) scan were reconstructed to get 3D model of skull defect. Prosthesis was made by 3D printer accordingly using PLA as material. There was no complication reported postoperatively and cosmetic satisfaction was obtained on both cases. CONCLUSION: The use of PLA implant with 3D printing customization was proved to be cost-effective and good cosmetic satisfaction with no complication reported following cranioplasty procedure.

scholarly journals Silent Hypertensive Crisis in an Adolescent: First Case Report of Pediatric Pheochromocytoma from Indonesia

2021 ◽  
Vol 8 ◽  
pp. 2333794X2110154
Author(s):  
Cahyani Gita Ambarsari ◽  
Eka Laksmi Hidayati ◽  
Bambang Tridjaja ◽  
Chaidir Arif Mochtar ◽  
Haryanti Fauzia Wulandari ◽  
...  
Keyword(s):  
Case Report ◽  
Hypertensive Crisis ◽  
Pediatric Nephrology ◽  
Tumor Resection ◽  
Secondary Hypertension ◽  
Antihypertensive Medications ◽  
First Case ◽  
History Of ◽  
The Right ◽  
Clinical Awareness

Secondary hypertension in children, to the rare extent, can be caused by endocrine factors such as pheochromocytoma, an adrenal tumor that secretes catecholamine. Only a few cases have been reported in the past 3 decades. To the best of our knowledge, this is the first case report of pediatric pheochromocytoma from Indonesia. We reviewed a case of a 16-year-old Indonesian boy with history of silent hypertensive crisis who was referred from a remote area in an island to the pediatric nephrology clinic at Cipto Mangunkusumo Hospital, Jakarta, Indonesia. Despite medications, his symptoms persisted for 14 months. At the pediatric nephrology clinic, pheochromocytoma was suspected due to symptoms of catecholamine secretion presented, which was palpitation, diaphoresis, and weight loss. However, as the urine catecholamine test was unavailable in Indonesia, the urine sample was sent to a laboratory outside the country. The elevated level of urine metanephrine, focal pathological uptake in the right adrenal mass seen on 131I-MIBG, and histopathology examination confirmed the suspicion of pheochromocytoma. Following the tumor resection, he has been living with normal blood pressure without antihypertensive medications. This case highlights that pheochromocytoma should always be included in the differential diagnoses of any atypical presentation of hypertension. In limited resources setting, high clinical awareness of pheochromocytoma is required to facilitate prompt referral. Suspicion of pheochromocytoma should be followed by measurement of urine metanephrine levels. Early diagnosis of pheochromocytoma would fasten the optimal cure, alleviate the symptoms of catecholamine release, and reverse hypertension.

scholarly journals Hydatid bone disease of the humerus: A case report from East Africa

2021 ◽  
Vol 2 (4) ◽  
Author(s):  
Antonio Loro ◽  
◽  
Francesca Loro ◽  
Niall Brown ◽  
◽  
...  
Keyword(s):  
Case Report ◽  
Bone Disease ◽  
Appendicular Skeleton ◽  
First Case ◽  
Healing Fracture ◽  
Health Centres ◽  
Diagnostic Difficulties ◽  
History Of ◽  
The Right

Skeletal hydatidosis is extremely rare and involvement of the long bones of the appendicular skeleton is exceptional. We report on a case of a 68-year-old Ugandan woman who presented with a long standing history of a non-healing fracture of the mid-diaphysis of the right humerus. She had undergone multiple surgeries in peripheral health centres during the previous years. A shoulder disarticulation was carried out in our facility in agreement with the patient, who refused any other attempt of bone reconstruction. A diagnosis of hydatid bone disease was confirmed intra-operatively. There is no recurrence of the disease for a two-year follow-up period. To our knowledge this is the first case report of skeletal hydatosis in Uganda. It emphasises the diagnostic difficulties and delays, and how this led to inadequate management for the patient in this case.

Popliteal artery thrombosis secondary to a tibial osteochondroma

VASA ◽  
2011 ◽  
Vol 40 (3) ◽  
pp. 251-255 ◽  
Author(s):  
Gruber-Szydlo ◽  
Poreba ◽  
Belowska-Bien ◽  
Derkacz ◽  
Badowski ◽  
...  
Keyword(s):  
Case Report ◽  
Magnetic Resonance Angiography ◽  
Popliteal Artery ◽  
Doppler Ultrasonography ◽  
Histopathological Examination ◽  
Previous History ◽  
Plain Radiography ◽  
Artery Thrombosis ◽  
History Of ◽  
The Right

Popliteal artery thrombosis may present as a complication of an osteochondroma located in the vicinity of the knee joint. This is a case report of a 26-year-old man with symptoms of the right lower extremity ischaemia without a previous history of vascular disease or trauma. Plain radiography, magnetic resonance angiography and Doppler ultrasonography documented the presence of an osteochondrous structure of the proximal tibial metaphysis, which displaced and compressed the popliteal artery, causing its occlusion due to intraluminal thrombosis..The patient was operated and histopathological examination confirmed the diagnosis of osteochondroma.

Case Report: Management of a Patient with mTBI and Vestibular Hypofunction with the Binasal Occlusion Technique

2018 ◽  
pp. 87-90
Keyword(s):  
Case Report ◽  
Visual Motion ◽  
Hand Movement ◽  
Motion Sensitivity ◽  
Vestibular Hypofunction ◽  
First Case ◽  
Neurological Exam ◽  
History Of ◽  
Occlusion Technique ◽  
Visual Vertigo

Background: Binasal Occlusion (BNO) is a clinical technique used by many neurorehabilitative optometrists in patients with mild traumatic brain injury (mTBI) and increased visual motion sensitivity (VMS) or visual vertigo. BNO is a technique in which partial occluders are added to the spectacle lenses to suppress the abnormal peripheral visual motion information. This technique helps in reducing VMS symptoms (i.e., nausea, dizziness, balance difficulty, visual confusion). Case Report: A 44-year-old AA female presented for a routine eye exam with a history of mTBI approximately 33 years ago. She was suffering from severe dizziness for the last two years that was adversely impacting her ADLs. The dizziness occurred in all body positions and all environments throughout the day. She was diagnosed with vestibular hypofunction and had undergone vestibular therapy but reported little improvement. Neurological exam revealed dizziness with both OKN drum and hand movement, especially in the left visual field. BNO technique resulted in immediate relief of her dizziness symptoms. Conclusion: To our knowledge, this is the first case that illustrates how the BNO technique in isolation can be beneficial for patients with mTBI and vestibular hypofunction. It demonstrates the success that BNO has in filtering abnormal peripheral visual motion in these patients.

scholarly journals Bilateral Congenital Humeroradial Synostostis Presenting with Bilateral Proximal Radius Fractures: A Case Report

2021 ◽  
pp. 29-32
Author(s):  
Elsiddig E. Mahmoud
Keyword(s):  
Case Report ◽  
Elbow Joint ◽  
Parental Education ◽  
Functional Disability ◽  
Congenital Abnormalities ◽  
Rare Condition ◽  
Radius Fractures ◽  
Proximal Radius ◽  
History Of ◽  
Uncommon Condition

Congenital bilateral humeroradial synostosis (HRS) is a rare condition. It is generally divided into 2 categories. In the first group, which is mainly sporadic, additional upper limb hypoplasia typically coexists. In the second group, which is classically familial, HRS is commonly an isolated upper extremity anomaly. HRS can lead to variable degrees of functional disability. The clinical case reported here illustrates a possibly avoidable presentation of this uncommon condition. In this case report, we present a 6-week-old male who presented with bilateral radius fractures. Radiography revealed congenital HRS at both elbows. No other associated congenital abnormalities were detected, and there was no family history of similar conditions in any first-degree relatives. In cases of congenital HRS, movement at the elbow joint is not possible. Parents who are unaware of this information might try to straighten their infant’s elbows, which in turn may result in fractures of the proximal radius. Hence, early diagnosis and proper parental education could prevent fractures as a sequela of HRS.

Camptodactyly: A Finger Deformity in a Young Violinist

2000 ◽  
Vol 15 (2) ◽  
pp. 75-78
Author(s):  
Gerald P Melchor ◽  
Alice G Brandfonbrener
Keyword(s):  
Case Report ◽  
General Population ◽  
Surgical Correction ◽  
Flexion Deformity ◽  
Pip Joint ◽  
Congenital Condition ◽  
The Right ◽  
Little Finger

This report documents a congenital condition previously undescribed in a young musician. Uncommon and affecting between 1% and 2% of the general population, camptodactyly is an atraumatic, congenital flexion deformity of the proximal interphalangeal (PIP) joint of the finger, most often the right little finger, as seen in our patient.1 While this condition is not normally of great significance, except when present as part of a wider syndrome, its occurrence as described in this case report has great implications for musicians in that it may have detrimental effects on their ability to perform. Attempts at surgical correction of such a defect, in itself controversial, might further affect a musician’s ability to return to performance as well as to continue studying his or her instrument.

scholarly journals Pushing behavior and hemiparesis: which is critical for functional recovery in pusher patients ? Case report

2007 ◽  
Vol 65 (2b) ◽  
pp. 536-539 ◽  
Author(s):  
Taiza E.G. Santos-Pontelli ◽  
Octávio M. Pontes-Neto ◽  
José Fernando Colafêmina ◽  
Dráulio B. de Araújo ◽  
Antônio Carlos Santos ◽  
...  
Keyword(s):  
Case Report ◽  
Barthel Index ◽  
Functional Improvement ◽  
Chronic Hypertension ◽  
Acute Hemorrhage ◽  
Lateral Posterior ◽  
History Of ◽  
Lateral Posterior Nucleus ◽  
Neuroimaging Study ◽  
The Right

We report a sequential neuroimaging study in a 48-years-old man with a history of chronic hypertension and lacunar strokes involving the ventral lateral posterior nucleus of the thalamus. The patient developed mild hemiparesis and severe contraversive pushing behavior after an acute hemorrhage affecting the right thalamus. Following standard motor physiotherapy, the pusher behavior completely resolved 3 months after the onset and, at that time, he had a Barthel Index of 85, although mild left hemiparesis was still present. This case report illustrates that pushing behavior itself may be severely incapacitating, may occur with only mild hemiparesis and affected patients may have dramatic functional improvement (Barthel Index 0 to 85) after resolution pushing behavior without recovery of hemiparesis.

scholarly journals Excellent Functionality Despite Clinico-Radiological Deformity in Osteomyelitis Variolosa - A Case Report

2015 ◽  
Vol 9 (1) ◽  
pp. 114-119
Author(s):  
Aakash Mugalur ◽  
Sunil M Shahane ◽  
Ashwin Samant ◽  
Aditya C Pathak ◽  
Rajeev Reddy
Keyword(s):  
Case Report ◽  
Elbow Joint ◽  
Cortical Thickening ◽  
Diagnostic Challenge ◽  
Left Hand ◽  
Articular Surfaces ◽  
The World ◽  
Radiological Abnormality ◽  
Endemic Areas ◽  
The Right

Despite the eradication of smallpox from the world in 1980 the osteo-articular sequelae of smallpox are still occasionally noticed in previously endemic areas. The sequelae of osteomyelitis variolosa may raise a diagnostic challenge to the untrained eyes of the surgeon. We present a case of “osteomyelitis variolosa” in a 70 years old patient. The patient had bilateral dislocation of the elbow joint with multidirectional instability. There was distortion of the articular surfaces and ankylosis of the bilateral proximal radio-ulnar joint. Hypoplasia of the right ulna with short fourth and fifth metacarpals of the left hand and hypoplasia of right fourth metacarpal with cortical thickening was noted radiologically. The patient had minimal disability of his elbows despite the striking radiological abnormality and was functionally independent.

scholarly journals Case Report: Bow Hunter's Syndrome Caused by Compression of Extracranially Originated Posterior Inferior Cerebellar Artery

2021 ◽  
Vol 12 ◽  
Author(s):  
Noriya Enomoto ◽  
Kenji Yagi ◽  
Shunji Matsubara ◽  
Masaaki Uno
Keyword(s):  
Case Report ◽  
Posterior Inferior Cerebellar Artery ◽  
Head Rotation ◽  
Radiographic Examination ◽  
Posterior Decompression ◽  
First Case ◽  
Cerebellar Artery ◽  
Cervical Approach ◽  
The Right ◽  
Hunter's Syndrome

Bow hunter's syndrome (BHS) is most commonly caused by compression of the vertebral artery (VA). It has not been known to occur due to an extracranially originated posterior inferior cerebellar artery (PICA), the first case of which we present herein. A 71-year-old man presented with reproducible dizziness on leftward head rotation, indicative of BHS. On radiographic examination, the bilateral VAs merged into the basilar artery, and the left VA was predominant. The right PICA originated extracranially from the right VA at the atlas–axis level and ran vertically into the spinal canal. During the head rotation that induced dizziness, the right PICA was occluded, and a VA stenosis was revealed. Occlusion of the PICA was considered to be the primary cause of the dizziness. The patient underwent surgery to decompress the right PICA and VA via a posterior cervical approach. Following surgery, the patient's dizziness disappeared, and the stenotic change at the right VA and PICA improved. The PICA could be a causative artery for BHS when it originates extracranially at the atlas–axis level, and posterior decompression is an effective way to treat it.

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