Clinical Case Reports

Cover image for Vol. 4 Issue 8

Early View (Online Version of Record published before inclusion in an issue)

Editor-in-Chief: Dr Charles Young

Online ISSN: 2050-0904

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  1. 1 - 25
  1. Case Reports

    1. You have full text access to this OnlineOpen article
      Importance of genetic testing in global health during the evaluation of familial microcephaly

      Isaac Molinero, Jordan Broman-Fulks, Michael J. Lyons, Maria Gisele Matheus, Alka Chaubey, Barbara R. DuPont, Michael J. Friez, Steve A. Skinner and Kenton R. Holden

      Version of Record online: 26 AUG 2016 | DOI: 10.1002/ccr3.669

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      A focused genetic workup is useful in determining the cause of familial microcephaly, especially in the setting of mildly different phenotypes. As illustrated by this case from an impoverished international urban location, one must not assume the etiology for the apparent familial microcephaly is the same for all affected members.

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      Immature gastric teratoma in an infant: a case report and review of the literatures

      Thitiporn Junhasavasdikul, Nichanan Ruangwattanapaisarn, Sani Molagool, Chatmanee Lertudomphonwanit, Nongnuch Sirachainan and Noppadol Larbcharoensub

      Version of Record online: 25 AUG 2016 | DOI: 10.1002/ccr3.654

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      Immature gastric teratoma is an uncommon germ cell tumor of the stomach. We report a rare case of immature gastric teratoma in an infant with down syndrome with clinically presenting with hematemesis and severe anemia. Complete surgical resection remains the cornerstone of treatment.

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      Bipolar irrigated radiofrequency ablation of resistant ventricular tachycardia with a septal intramural origin: the initial experience and a description of the method

      Artur Baszko, Wojciech Telec, Piotr Kałmucki, Piotr Iwachów, Karol Kochman, Radosław Szymański, Jan Kłopocki, Stefan Ożegowski, Andrzej Szyszka and Tomasz Siminiak

      Version of Record online: 25 AUG 2016 | DOI: 10.1002/ccr3.648

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      Bipolar radiofrequency (RF) ablation is effective in treatment of ventricular tachycardia originating from thick interventricular septum. The RF generator and CARTO system can be used to precisely and safely perform ablation. Standard ablation catheter can be used with indifferent ablation electrode connected to the electrode receptacle in RF generator with custom-made cable.

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      Right parietal source in Mahjong-induced seizure: a system epilepsy of focal origin

      Kazuki Fukuma, Masafumi Ihara, Kotaro Miyashita, Rie Motoyama, Tomotaka Tanaka, Katsufumi Kajimoto, Akio Ikeda and Kazuyuki Nagatsuka

      Version of Record online: 23 AUG 2016 | DOI: 10.1002/ccr3.653

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      Mahjong, a game similar to bridge and chess in Western cultures, can cause reflex seizure. We report a case of Mahjong-induced seizures with the first documentation of ictal electroencephalography (EEG) findings, which showed secondarily generalized partial seizure of the right parietal origin.

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      Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities

      Alistair T. Pagnamenta, Malcolm F. Howard, Samantha J. L. Knight, David A. Keays, Gerardine Quaghebeur, Jenny C. Taylor and Usha Kini

      Version of Record online: 23 AUG 2016 | DOI: 10.1002/ccr3.663

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      This report constitutes the first report of a cryptic exonic splice-donor site in CDK5RAP2, highlights the importance of evaluating novel splice mutations, and suggests that the phenotypic range associated with CDK5RAP2 mutations may include skin pigmentary abnormalities.

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      Common electrocardiogram variations pre- and post-marathon

      John P. Martin-Beaulieu, Karen M. Myrick, Thomas Martin, Rachel W. Pata and Richard S. Feinn

      Version of Record online: 23 AUG 2016 | DOI: 10.1002/ccr3.650

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      Electrocardiographic changes can be present in marathon runners. These findings may be misinterpreted as malignant by healthcare providers. For example, incomplete right bundle branch block, early ventricular repolarization, and left ventricular hypertrophy by voltage criteria alone are quite common in athletes, yet considered benign.

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      The potential role of HER2 upregulation in metastatic breast cancer to the uterus: a case report

      Melissa Y. Y. Moey, Omer A. Hassan, Christos N. Papageorgiou, Stephanie L. Schnepp and John T. Hoff

      Version of Record online: 23 AUG 2016 | DOI: 10.1002/ccr3.602

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      Abnormal uterine bleeding in a patient on maintenance hormonal therapy for breast cancer should raise concern for endometrial abnormalities including rare uterine metastasis from the breast. Hormonal receptor profile changes in metastatic lesions favoring human epidermal growth factor receptor 2 (HER2) overexpression may be involved in the pathogenesis of metastasis to the uterus.

    8. You have full text access to this OnlineOpen article
      Idiopathic sclerosing orbital inflammation mimicking a malignant spindle cell tumor in a dog

      Nina Marie Rzechorzek, Colin Smith, Tobias Schwarz, Tiziana Liuti, Richard Elders, Samantha Woods, Jessica Lawrence and Katia Marioni-Henry

      Version of Record online: 23 AUG 2016 | DOI: 10.1002/ccr3.639

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      A dog presented with a retrobulbar mass, diagnosed histopathologically as malignant spindle cell neoplasia. Emergence of analogous findings in the contralateral orbit prompted extended immunohistochemistry of the original mass and reassignment to idiopathic sclerosing orbital inflammation. Early incisional biopsy with extended immunohistochemical analysis should be considered for canine orbital tumors.

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      Clinical report: variable phenotypic expression in a large sibling cohort with a deletion of 4p16.1

      Carrie Guy, Xianfu Wang, Xianglan Lu, Jin Lu and Shibo Li

      Version of Record online: 18 AUG 2016 | DOI: 10.1002/ccr3.638

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      We report a half-sibling cohort with deletion of 4p16.1, astigmatism, gross and fine motor delay, variable intellectual disability, and variable behavioral concerns. However, two siblings without the deletion also had learning delays and psychological concerns. Thus, variable phenotypic expression was seen and the significance of deletion of 4p16.1 remains unclear.

    10. You have full text access to this OnlineOpen article
      Discordant monoamniotic twins with Pena–Shokeir phenotype

      Sumaiya Adam, Hennie Lombaard and Careni Spencer

      Version of Record online: 18 AUG 2016 | DOI: 10.1002/ccr3.651

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      Pena–Shokeir phenotype is a rare disorder. However, its etiology is incompletely understood. It may be familial or may be due to anoxic–ischemic etiology. Although rare, it can affect one twin in a monoamniotic pregnancy, most likely due to early cord entanglement.

    11. You have full text access to this OnlineOpen article
      Multiple endocrine neoplasia phenocopy revealed as a co-occurring neuroendocrine tumor and familial hypocalciuric hypercalcemia type 3

      Silje Hovden, Marie Louise Jespersen, Peter H. Nissen, Per Løgstrup Poulsen, Lars Rolighed, Søren A. Ladefoged and Lars Rejnmark

      Version of Record online: 18 AUG 2016 | DOI: 10.1002/ccr3.657

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      Familial hypocalciuric hypercalcemia type 3 should be considered as differential diagnosis in patients with suspected primary hyperparathyroidism and/or suspected multiple neoplasia syndrome, as correct diagnosis will spare the patients for going through multiple futile parathyroidectomies and for the worry of being diagnosed with a cancer susceptibility syndrome.

    12. You have full text access to this OnlineOpen article
      Egg provoked food protein-induced enterocolitis-like syndrome in an adult

      Celia Zubrinich, Mark Hew and Robyn O'Hehir

      Version of Record online: 17 AUG 2016 | DOI: 10.1002/ccr3.665

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      Food protein-induced enterocolitis syndrome is a non-IgE-mediated food allergy usually diagnosed in infancy. We report a case of a similar syndrome in an adult, following ingestion of egg. We remind clinicians to consider this diagnosis which may present to emergency physicians and gastroenterologists long before an allergist is consulted.

    13. You have full text access to this OnlineOpen article
      Airway obstruction caused by rapid enlargement of cervical lymphangioma in a five-month-old boy

      Junji Shimizu, Takashi Taga, Takuma Kishimoto, Motoki Ohta, Kouji Tagawa, Tomoaki Kunitsu, Tetsunobu Yamane, Yasuyuki Tsujita, Yoshihiro Kubota and Yutaka Eguchi

      Version of Record online: 17 AUG 2016 | DOI: 10.1002/ccr3.659

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      Cervical lymphangioma can cause airway obstruction secondary to enlargement following infection. Physicians should be aware that the airway obstruction can progress rapidly when patients with cervical lymphangioma have respiratory symptoms. Sclerotherapy for lymphangioma can cause both transient swelling and airway obstruction; thus, prophylactic and elective tracheostomy should be considered.

    14. You have full text access to this OnlineOpen article
      Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic

      Nicole J. Boczek, Ashley N. Sigafoos, Michael T. Zimmermann, Rachel L. Maus, Margot A. Cousin, Patrick R. Blackburn, Raul Urrutia, Karl J. Clark, Marc C. Patterson, Myra J. Wick and Eric W. Klee

      Version of Record online: 15 AUG 2016 | DOI: 10.1002/ccr3.655

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      A de novo GFAP variant, p.R376W, was identified in a child presenting with hypotonia, developmental delay, and abnormal brain MRI. Following the 2015 ACMG variant classification guidelines and the functional studies showing protein aggregate formation in vitro, p.R376W should be classified as a pathogenic variant, causative for Alexander disease.

  2. Clinical Images

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      Hypopyon complicating the course of anterior uveitis in a patient with Behcet's syndrome

      Namrata Singh and Petar Lenert

      Version of Record online: 15 AUG 2016 | DOI: 10.1002/ccr3.664

      Thumbnail image of graphical abstract

      Physicians caring for patients with Behcet's should be aware of the potential complication of uveitis with hypopyon in these patients, and the condition warrants prompt management.

  3. Case Reports

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      Co-segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient

      Raquel M. Fernández, Ana Peciña, Beatriz Muñoz-Cabello, Guillermo Antiñolo and Salud Borrego

      Version of Record online: 9 AUG 2016 | DOI: 10.1002/ccr3.645

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      Despite co-segregation of two different genetic neurological disorders within a family is rare, clinicians should take into consideration this possibility in patients presenting with unusual complex phenotypes or with unexpected electrophysiological findings. Here, we report a Spanish 11-month-old patient with spinal muscular atrophy type 2 and Charcot-Marie-Tooth 1A.

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      Fetal urine biochemistry in antenatal Bartter syndrome: a case report

      Myriam L. Rachid, Sophie Dreux, Isabelle Czerkiewicz, Georges Deschênes, Rosa Vargas-Poussou, Dominique Mahieu-Caputo, Jean-François Oury and Françoise Muller

      Version of Record online: 8 AUG 2016 | DOI: 10.1002/ccr3.471

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      Bartter syndrome is a severe inherited tubulopathy responsible for renal salt wasting, and hence electrolyte disorders and dehydration. Prenatally, it is characterized by severe polyhydramnios caused by fetal polyuria. We studied for the first time fetal urine in a Bartter syndrome case and demonstrated that the tubulopathy is already present at 24 weeks of gestation.

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      A case of Klumpke's obstetric brachial plexus palsy following a Cesarean section

      Mohammad M. Al-Qattan and Amel A. F. El-Sayed

      Version of Record online: 2 AUG 2016 | DOI: 10.1002/ccr3.644

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      It is generally thought that Klumpke's palsy is not seen as obstetric injury. The authors present a case of Klumpke's palsy with Horner syndrome following delivery by emergency Cesarean section. Neurolysis and nerve grafting partially corrected the paralysis.

  4. Clinical Images

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      An unusual cause of dyspnea and tachycardia

      Ian S. Reynolds, Peter Coyle, Michael Murray, Ronan Waldron and Kevin Barry

      Version of Record online: 29 JUL 2016 | DOI: 10.1002/ccr3.643

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      Diaphragmatic hernias are typically congenital or caused by trauma. Delayed presentation is not uncommon. Repair can be undertaken through an open or minimally invasive abdominal or thoracic approach. Small defects can be repaired with sutures, while larger defects require a mesh repair. This patient's comorbidities precluded him from surgery.

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      The forgotten biliary stent: an unusual cause of diarrhea

      Harkiran Sran, Joseph Sebastian and Samer Doughan

      Version of Record online: 29 JUL 2016 | DOI: 10.1002/ccr3.637

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      This case highlights the possible complications of biliary stents, which may include migration and impaction in the gastrointestinal tract. It also emphasizes the need for a robust follow-up system after stent placement, to minimize the risks and possible sequelae of a forgotten stent.

  5. Case Reports

    1. You have full text access to this OnlineOpen article
      Optic nerve astrocytoma in a dog

      Orr Rozov, Pablo E. Piñeyro, Kurt L. Zimmerman, Ian P. Herring, Rachel Matusow, John H. Rossmeisl, Bernard S. Jortner and Jennifer Dreyfus

      Version of Record online: 27 JUL 2016 | DOI: 10.1002/ccr3.612

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      Intracranial astrocytomas are relatively uncommon in dogs and optic nerve astrocytomas even more so. This neoplasm should be considered as differential in canine patients with vision loss, retinal detachment, ocular mass, and histopathologic findings of infiltrative fusiform to polygonal glial cells possibly associated with glomeruloid vascular proliferation.

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      Pure red cell aplasia caused by parvovirus B19 in a heart transplant recipient

      Rosangela Invernizzi, Raffaella Bastia and Federica Quaglia

      Version of Record online: 27 JUL 2016 | DOI: 10.1002/ccr3.641

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      A case of parvovirus B19-induced pure red cell aplasia occurring in a heart transplant recipient is reported. The diagnosis of this rare but clinically important complication can be suspected on the basis of the pathognomonic morphological features of the bone marrow.

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      An atypical case of meconium periorchitis as paratesticular mass in a neonate

      Harnam Singh Rekhi, Sushil Kumar Mittal, Srinath Reddy Mannem, Sahil Arora, Kaushal Seth, Sathya Pakkiri, Ravitej Singh, Saryu Gupta and Manoj Mathur

      Version of Record online: 27 JUL 2016 | DOI: 10.1002/ccr3.619

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      A 20-day-old boy was presented with left scrotal swelling, clinically diagnosed as hydrocele. Ultrasonographic findings suggested hydrocele with paratesticular mass. Intraoperatively we found paratesticular mass, separate from left testis. Specimen revealed fibroconnective tissue with mucoid degeneration and focal areas of calcification suggesting meconium periorchitis. It is important to consider meconium periorchitis as one of the etiologies, thereby avoiding unnecessary orchidectomies.

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      Treatment of complex regional pain syndrome with stellate ganglion local anesthetic blockade: a case report of one patient's experiences with traditional bupivacaine HCl and liposome bupivacaine

      Martin G. Ferrillo

      Version of Record online: 27 JUL 2016 | DOI: 10.1002/ccr3.614

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      Complex regional pain syndrome (CRPS) is a poorly understood, debilitating disorder characterized by severe chronic pain in an affected limb or region of the body. This case presentation is the first to describe the effectiveness and prolonged duration of the effect of liposome bupivacaine in stellate ganglion block for CRPS.

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      Solitary extraosseous plasmacytoma

      Hussein Merza and Raj Sarkar

      Version of Record online: 26 JUL 2016 | DOI: 10.1002/ccr3.609

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      Plasma cell neoplasms are characterized by a neoplastic plasma cell lineage which produces a monoclonal immunoglobulin. These neoplasms can present as a single lesion (solitary plasmacytoma) or as multiple lesions (multiple myeloma). Solitary plasmacytomas most frequently occur in bone (plasmacytomas of bone), but can also be found outside bone in soft tissues (extramedullary plasmacytomas).

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