scholarly journals A Neonate with CLOVES Syndrome

2014 ◽  
Vol 2014 ◽  
pp. 1-2 ◽  
Author(s):  
Dilek Sarici ◽  
Mustafa Ali Akin ◽  
Selim Kurtoglu ◽  
Filiz Tubas ◽  
Serdar Umit Sarici
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Adipose Tissue ◽  
Vascular Malformation ◽  
Rare Case ◽  
Vascular Malformations ◽  
Facial Asymmetry ◽  
Port Wine ◽  
Port Wine Stains ◽  
The Right

Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome is a recently delineated disorder that comprises vascular malformations (typically truncal), dysregulated adipose tissue, scoliosis, enlarged bony structures (typically of the legs) without progression, or distorting bony overgrowth. The name CLOVE was subsequently extended to CLOVES to emphasize the association with scoliosis/skeletal and spinal anomalies and seizures/central nervous system malformations. We herein report a very rare case of CLOVES syndrome with the findings of lipomatous overgrowth in the cheek (facial asymmetry), vascular malformation (hemangiomas), epidermal nevi (large port wine stains), and skeletal abnormalities (widened first interdigital space, dystrophia in the nail of the first digit of the right foot, and bilateral hypertrophy of the first digits of the feet).

Location of Port-Wine Stains and Likelihood of Complications

PEDIATRICS ◽  
1992 ◽  
Vol 89 (1) ◽  
pp. 168-168
Author(s):  
GREGG T. LUEDER
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Port Wine ◽  
Port Wine Stains

To the Editor.— I read with interest Location of Port-Wine Stains and the Likelihood of Ophthalmic and/or Central Nervous System Complications by Tallman et al.1 Knowing the incidence of complications in patients with port-wine stains (PWS) is important, both for counseling families regarding risks and for justifying screening recommendations. Although the article provides some useful information, I feel that further comment is warranted. The authors found a 7% incidence of glaucoma in patients with PWS in the trigeminal distribution (18 of 274 patients).

Location of Port-Wine Stains and the Likelihood of Ophthalmic and/or Central Nervous System Complications

PEDIATRICS ◽  
1991 ◽  
Vol 87 (3) ◽  
pp. 323-327
Author(s):  
B. Tallman ◽  
O. T. Tan ◽  
Shawn Trainor ◽  
J. G. Morelli ◽  
W. L. Weston ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Trigeminal Nerve ◽  
Lower Eyelid ◽  
Port Wine Stain ◽  
Port Wine ◽  
Cns Involvement ◽  
Upper Eyelid ◽  
Port Wine Stains ◽  
Bilateral Distribution

Of 310 patients with port-wine stains, 68% had more than one dermatome involved; 85% had unilateral and 15% had a bilateral distribution of their port-wine stain. At the time of examination, 8% of all patients with trigeminal port-wine stains had evidence of eye and/or central nervous system (CNS) involvement. Extensive involvement, with port-wine stain over the trunk and extremities as well as the head and neck, was observed in 12%. Patients who did not have port-wine stains on the areas served by branches V1 and V2 of the trigeminal nerve had no signs or symptoms of eye and/or CNS involvement. Port-wine stains of the eyelids, bilateral distribution of the birthmark, and unilateral port-wine stains involving all three branches of the trigeminal nerve were associated with a significantly higher likelihood of having eye and/or CNS complications. Twenty-four percent of those with bilateral trigeminal nerve port-wine stains had eye and/or CNS involvement compared with 6% of those with unilateral lesions. All those who had eye and/or CNS complications had port-wine stain involvement of the eyelids; in 91% both upper and lower eyelids were involved, whereas in 9% only the lower eyelid was involved. None of those with upper eyelid port-wine stains alone had eye and/or CNS complications. In addition, 3 (75%) of the 4 subjects with seizures alone had bilateral port-wine stain involvement. A third group, those with unilateral V1, V2, and V3, port-wine stains, had eye and/or CNS complications in 3 (19%) of 16 subjects. Therefore, persons who have port-wine stains of the eyelids, unilateral V1, V2, V3, port-wine stains, or bilateral lesions should be screened for glaucoma and have appropriate testing for CNS involvement.

Neurosarcoidosis with Intraparenchymal Cystic Lesions

2008 ◽  
Vol 21 (6) ◽  
pp. 810-816 ◽  
Author(s):  
F.A. Al Hajri ◽  
A.T. Muqim ◽  
T.J.E. Muttikkal
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Rare Case ◽  
Clinical Manifestations ◽  
Central Nervous System Involvement ◽  
Unknown Etiology ◽  
Cystic Lesions ◽  
Imaging Appearance ◽  
Granulomatous Disorder ◽  
The Right

Sarcoidosis is a chronic multi-system granulomatous disorder of unknown etiology. Central nervous system involvement is relatively uncommon in sarcoidosis. Clinical manifestations and radiological appearances of neurosarcoidosis vary widely depending on the site and activity of the lesions. In most cases, the imaging appearance is nonspecific. We report a very rare case of extensive neurosarcoidosis with progressively enlarging cystic lesions in the right temporal lobe.

scholarly journals Orbital Lymphatic-Venous Malformation Accompanied by an Intraocular Vascular Malformation: A Rare Case Study

2021 ◽  
pp. 396-401
Author(s):  
Karny Shouchane-Blum ◽  
Iftach Yassur ◽  
Amir Sternfeld ◽  
Miriam Regev ◽  
Orly Gal-Or ◽  
...  
Keyword(s):  
Vascular Malformation ◽  
Rare Case ◽  
Vascular Malformations ◽  
Venous Malformation ◽  
Female Infant ◽  
Venous Malformations ◽  
Venous Anomalies ◽  
Developmental Venous Anomalies ◽  
The Right

Lymphatic-venous malformations (LVMs) are development defects that result in abnormal connections between the lymphatic and venous systems. The authors describe a 7-weeks-old female infant who presented with a right orbital LVM extending to the ipsilateral cheek and subconjunctiva of the right eye, intracranial developmental venous anomalies in the right cerebellum, and a significant right eye intraocular retinal vascular malformation. Since orbital LVM is usually diagnosed in infancy or childhood, pediatric ophthalmologists should actively look for intraocular vascular malformations as such findings can poorly affect a patient’s vision.

scholarly journals Orbital apex syndrome due to aspergillosis: case report

2001 ◽  
Vol 59 (3B) ◽  
pp. 806-808 ◽  
Author(s):  
Yvens B. Fernandes ◽  
Ricardo Ramina ◽  
Guilherme Borges ◽  
Luciano S. Queiroz ◽  
Marcos V.C. Maldaun ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Renal Failure ◽  
Nervous System ◽  
Rare Case ◽  
Visual Loss ◽  
Orbital Apex ◽  
Orbital Apex Syndrome ◽  
Facial Numbness ◽  
The Central Nervous System ◽  
The Right

We report the case of a 73-year-old female who presented facial numbness and pain in the first division of the trigeminal nerve, ptosis, diplopia and visual loss on the right side for the previous four months. The neurological, radiological and histological examination demonstrated a rare case of invasive fungal aspergillosis of the central nervous system, causing orbital apex syndrome, later transformed in temporal brain abscess. She died ten months later due to respiratory and renal failure in spite of specific antimycotic therapy.

Adipocytes-released Peptides Involved in the Control of Gastrointestinal Motility

2019 ◽  
Vol 20 (6) ◽  
pp. 614-629 ◽  
Author(s):  
Eglantina Idrizaj ◽  
Rachele Garella ◽  
Roberta Squecco ◽  
Maria Caterina Baccari
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Adipose Tissue ◽  
Gastrointestinal Motility ◽  
Diagnostic Tools ◽  
Therapeutic Approaches ◽  
Motor Responses ◽  
Gastrointestinal Motor ◽  
Treatment Of Obesity ◽  
Novel Therapeutic

The present review focuses on adipocytes-released peptides known to be involved in the control of gastrointestinal motility, acting both centrally and peripherally. Thus, four peptides have been taken into account: leptin, adiponectin, nesfatin-1, and apelin. The discussion of the related physiological or pathophysiological roles, based on the most recent findings, is intended to underlie the close interactions among adipose tissue, central nervous system, and gastrointestinal tract. The better understanding of this complex network, as gastrointestinal motor responses represent peripheral signals involved in the regulation of food intake through the gut-brain axis, may also furnish a cue for the development of either novel therapeutic approaches in the treatment of obesity and eating disorders or potential diagnostic tools.

scholarly journals Acute exudative polymorphous paraneoplastic vitelliform maculopathy (AEPPVM) associated with choroidal melanoma

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Aluisio Rosa Gameiro Filho ◽  
Guilherme Sturzeneker ◽  
Ever Ernesto Caso Rodriguez ◽  
André Maia ◽  
Melina Correia Morales ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Serous Retinal Detachment ◽  
Central Nervous System Involvement ◽  
Choroidal Melanoma ◽  
Posterior Pole ◽  
Pancreatic Metastasis ◽  
Small Areas ◽  
History Of ◽  
The Right

Abstract Background To report a case of acute exudative polymorphous paraneoplastic vitelliform maculopathy in a patient with a history of choroidal melanoma, with metastases to the pancreas, liver, and central nervous system. Case presentation A 63-year-old patient, with a history of enucleation of the right eye due to choroidal melanoma, complained of progressive visual loss during a follow-up visit. Fundoscopic examination revealed multiple small areas of serous retinal detachment scattered throughout the posterior pole and ancillary tests confirmed the diagnosis of acute exudative polymorphous paraneoplastic vitelliform maculopathy (AEPPVM). Screening for systemic metastases showed pancreatic, hepatic, and central nervous system involvement. Conclusions We describe a rare case of acute exudative polymorphous paraneoplastic vitelliform maculopathy, which should be considered in patients with or without a history of melanoma, who have vitelliform retinal detachments. Nevertheless, no previous reviews of literature have shown a correlation between AEPPVM and pancreatic metastasis.

scholarly journals RARE-29. PRIMARY CENTRAL NERVOUS SYSTEM NON-HODGKIN LYMPHOMA IN AN 11-YEAR-OLD BOY: A CASE REPORT

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii448-iii448
Author(s):  
Jorge Luis Ramírez-Melo ◽  
Regina M Navarro-Martin del Campo ◽  
Manuel D Martinez-Albarran ◽  
Fernando Sánchez-Zubieta ◽  
Ana L Orozco-Alvarado ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Hodgkin Lymphoma ◽  
Central Nervous System Lymphoma ◽  
Complete Response ◽  
High Dose ◽  
Illustrative Case ◽  
Tumor Biopsy ◽  
Non Hodgkin Lymphoma ◽  
The Right

Abstract BACKGROUND Primary central nervous system lymphoma (PCNSL) are very rare in children. CLINICAL CASE: An 11-year-old male presented with a 2 months history with myoclonic movements in the upper right limb, and a sudden frontal headache, gait disturbance due to right hemiparesis and an ipsilateral convulsive episode. Upon admission he had critical condition, with hypertensive skull syndrome, Glasgow of 12, Karnofsky 40%, right hemiparesis, swallowing disorder, facial paralysis, and loss of photo motor reflex and unilateral amaurosis. A CT and MRI showed a huge tumor mass in the left tempo-parietal region, infiltrating the white matter and shifting the midline. A Tumor biopsy was done, and reported diffuse small cell non-Hodgkin lymphoma of high-grade, Burkitt type. Systemic lymphoma workup was negative. He received six cycles of chemotherapy based on high dose methotrexate, rituximab and triple intrathecal.After the second cycle an ophthalmologic evaluation was done, and found infiltration to the right retina, for which 6 cycles of intra vitreous chemotherapy with methotrexate were applied, he showed an excellent response, and recovered all his neurological functions except that right hemianopia persist. Control MRI showed partial response at 2nd cycle and complete response after the 4th cycle. No Radiation was performed. CONCLUSION This report highlights the fact that pediatric PCNSL may be effectively treated by a combination of HDMTX and rituximab-based chemoimmunotherapy without irradiation. Lack of awareness of this rare entity may lead to extense resections of brain, and potential permanent secuelae that were avoided in this illustrative case.

scholarly journals Esthetic and Functional Improvement of Asymmetric Lower Limb Overgrowth in a Proteus Syndrome Patient: a Combined Surgical Technique

2021 ◽  
Author(s):  
Francesca Riccardi ◽  
Simone Catapano ◽  
Giuseppe Cottone ◽  
Dino Zilio ◽  
Luca Vaienti
Keyword(s):  
Adipose Tissue ◽  
Lower Limb ◽  
Vascular Malformations ◽  
Functional Improvement ◽  
Proteus Syndrome ◽  
Phosphatase And Tensin Homolog ◽  
Tensin Homolog ◽  
Genetic Mosaicism ◽  
Phosphoinositide 3 Kinase ◽  
The Right

AbstractProteus syndrome is a rare, sporadic, congenital syndrome that causes asymmetric and disproportionate overgrowth of limbs, connective tissue nevi, epidermal nevi, alteration of adipose tissue, and vascular malformations. Genetic mosaicism, such as activating mutations involving protein kinase AKT1, phosphoinositide 3 kinase (PI3-K), and phosphatase and tensin homolog (PTEN), may be important causes of Proteus syndrome. However, many patients have no evidence of mutations in these genes. Currently, the diagnosis is clinical and based on phenotypic features. This article reports a case of Proteus syndrome in a 14-year-old female patient who presented with linear epidermal nevi, viscera anomalies, and adipose tissue dysregulation. She showed an asymmetric progressive overgrowth of the right lower limb after birth bringing relevant functional and esthetic consequences. Therefore, she asked a plastic surgery consultation and a surgical treatment with a combined technique was planned. With our approach, we were able to reduce leg diameter and improve joint mobility reliably and safely with satisfying esthetic results.

A Rare Case: Primary Venous Malformation in Parietal Bone

2021 ◽  
pp. 1-4
Author(s):  
Serhat Yarar ◽  
Ilker Uyar ◽  
Mehmet Emin Cem Yildirim ◽  
Mehmet Dadacı ◽  
Bilsev Ince
Keyword(s):  
Vascular Malformation ◽  
Rare Case ◽  
Histopathological Examination ◽  
Vascular Malformations ◽  
Venous Malformation ◽  
Parietal Bone ◽  
Hair Density ◽  
Trichilemmal Cyst ◽  
Advancement Flaps ◽  
Rotation Advancement

Primary intraosseous vascular malformations (PIVMs) are rare intraosseous lesions, accounting for approximately 0.5–1% of all intraosseous tumours. In this case report, we aimed to present a rare case of intraosseous vascular malformation causing a large lytic area in the parietal bone. A 25-year-old male patient was admitted to the clinic with a mass on the parietal bone. On physical examination, it was observed that the hair density on the mass was decreased, the mass had a soft consistency, and there was no pain on palpation. The patient was operated under local anaesthesia with a provisional diagnosis of a trichilemmal cyst. However, intraoperative diagnosis was a vascular malformation. There was a 3-cm full-thickness defect on the parietal bone caused by the lesion. The mass was excised completely while preserving the integrity of the dura. The resulting defect was reconstructed with bilateral rotation advancement flaps. The calvarial defect was not reconstructed due to equipment inadequacy. No complications were encountered in the postoperative period. Ninety-three PIVM cases have been reported in the skull since 1845. In very few of these cases, the mass is located in the parietal bone. The pathogenesis of PIVMs is not completely understood. The definitive diagnosis is made by histopathological examination. The therapeutic gold standard is surgery. Surgeons should keep in mind that radiological examination before the operation could prevent undesirable complications.

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