Introduction Klippel–Feil syndrome (KFS) is a congenital anomaly resulting from fusion of cervical vertebral bodies secondary to the dysregulation of signaling pathways during somite development. It is commonly associated with scoliosis and Sprengel deformity. We present a case of KFS with commonly associated abnormalities as well as deformities that have not yet been reported in the literature. Case Presentation A 3-year-old girl presented for further evaluation of a left upper extremity deformity following a negative genetic workup. Upon physical exam and radiographic imaging, the patient was diagnosed with KFS and associated abnormalities including cervical scoliosis, Sprengel deformity, and congenital deformity of the left upper extremity. Deformities of the left upper extremity include radioulnar synostosis, a four-rayed hand, and absent thenar musculature. The Sprengel deformity was corrected surgically with a Woodward procedure. Discussion Congenital musculoskeletal deformities can be differentiated based upon spinal and limb embryology. The presence of extraspinal abnormalities not originating from somite differentiation may suggest a severe form of KFS. Important considerations in the workup of the KFS patient include looking for deformities of the shoulder girdle and upper extremities to identify abnormalities for intervention at a young age.

Brain abscesses are infections of the brain parenchyma that can arise from either contiguous spread from local infection or by hematogenous spread from a distant site. Streptococcus anginosus of the Streptococcus anginosus group (SAG) is a commensal microbe of the mucosae of the oral cavity, gastrointestinal tract, and urogenital tract. We present a case of mono-microbial brain abscess caused by contiguous spread from relatively asymptomatic sinusitis that initially presented as a subdural hemorrhage on computed tomography.A 70-year-old male presented, obtunded, with a Glasgow Coma Score of eight. The patient seized on arrival. A computed tomography scan was read as a subdural hemorrhage, and magnetic resonance imaging showed a heterogeneous area at the anterior tip of the left frontal lobe interpreted as a frontoparietal abscess, along with pansinusitis. Craniotomy revealed a loculated abscess. Culture grew only Streptococcus anginosus. The patient did well postoperatively, was extubated by day five with rapidly improving neurological function, and was discharged to inpatient rehab by hospital-day eight for the continuation of intravenous antibiotics.This case represents a frontal lobe abscess caused by the contiguous spread of Streptococcus anginosus from a frontal sinus infection. This is a relatively rare presentation of SAG infection in an immunocompetent patient. The case outlines the importance of imaging modality choice in the various stages of brain abscess formation, and the necessity of maintaining an index of suspicion for brain abscess in patients with few traditional risk factors and little to no history on presentation.

We present a case of severe acquired acrodermatitis enteropathica in a vegan adult female with multiple underlying comorbidities. Acquired acrodermatitis enteropathica or zinc-deficiency dermatitis is the most common diagnosis than many practitioners realize with up to 10% of the patients in developed nations with the risk of zinc deficiency. The condition can be difficult to diagnose due to many similarly-presenting conditions. Furthermore, comorbid conditions in the patients can serve as confounders to the diagnosis. The symptoms are often extremely distressing for the patients, though the treatment is simple and clinical improvement occurs rapidly with appropriate care. We recommend a high index of suspicion to practitioners as well as a low-threshold for initiating treatment in the patients with any clinical symptoms of the condition.

Takotsubo cardiomyopathy is a rare syndrome of transient, reversible left ventricular systolic dysfunction. It mimics myocardial infarction clinically and includes elevated cardiac enzymes, but echocardiography reveals apical ballooning and basal hyperkinesis. Infrequently, midventricular or even reverse Takotsubo patterns have been described, involving ballooning of the basal heart without the characteristic ‘Takotsubo’ appearance. There are cases in the literature that support a connection between reverse Takotsubo cardiomyopathy (r-TTC) and neurological insults as inciting factors. We report a case of r-TTC in an otherwise healthy 23-year-old man presenting with back pain, urinary retention, bradycardia, and hypertension. Troponin levels and brain natriuretic peptide (BNP) were elevated, and echocardiogram revealed an ejection fraction (EF) of less than 20%. In addition, MRI demonstrated a spinal subdural hematoma from T1-S1 with no cord compression. Repeated echocardiogram demonstrated an EF of 20-25% with a reverse Takotsubo pattern of cardiomyopathy. With supportive care, his clinical picture improved with normalization of cardiac enzyme and BNP values. This case represents a r-TTC presenting as heart failure in a young, apparently healthy male likely incited by a spinal subdural hematoma. To our knowledge, it is the first of its kind reported.

BackgroundSpontaneous regression has been defined as occurring when the malignant tumor mass partially or completely disappears without any treatment or as a result of a therapy considered inadequate to influence systemic neoplastic disease. Recently, studies have implicated immunological responses as likely being involved. We report a case of a patient with squamous cell carcinoma of the lung who experienced spontaneous regression following biopsy without other intervention.Case presentationA 57-year-old white man was referred to our pulmonary clinic after an incidental finding of a nodule in the lower lobe of his left lung. Thoracic computed tomography revealed a 2.0 × 1.4 × 1.5 cm spiculated nodule in the superior segment of the left lower lobe. Workup identified the mass as a squamous cell carcinoma that was clinically staged as T1M0N0. The patient deferred treatment of this lesion. He undertook no significant lifestyle or medical changes. Three months later, computed tomography revealed that, compared with the initial study, the solitary mass had decreased in size to 1.6 × 0.9 × 0.9 cm. Follow-up computed tomography 1 year after the original workup demonstrated that the nodule had stabilized to its smaller size.ConclusionsStudies have shown that immunological response can be initiated by trauma to an area. Because the tumor regression became evident in our patient only after the tissue biopsy, his immune response to the surgical procedure seems to be a plausible contributor to the spontaneous regression. Further understanding of spontaneous regression can potentially impact the identification of neoplastic drug targets or even the course of a patient’s treatment plan and goals.

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Background Stiff person syndrome (SPS) is a rare neurologic disorder characterized by muscle rigidity. It is a disorder of reduced GABA activity leading to increased muscle tone and often painful spasms. It generally presents in the axial musculature but rarely can involve only one limb, typically a lower extremity. In rare cases it can be paraneoplastic which generally resolves on treatment of the underlying neoplasm. Case Report A 46-year-old male with a history of Hodgkin's Lymphoma in remission presented with left upper extremity pain secondary to a diagnosis of Stiff Person Syndrome limited to his left upper extremity. He had previously benefitted from plasmapheresis and was on diazepam and baclofen at home with relatively good control of his symptoms. SPS had previously been diagnosed with EMG and anti-GAD-65 antibody titers and was confirmed by an elevated anti-GAD-65 antibody titer. He was treated with plasmapheresis and maximum doses of medical treatment including botulinum toxin with only transient mild improvement in his symptoms. Conclusion This case represents a case of a rare disease that was refractory to all known therapies. It outlines the need for further understanding of this disorder in order to provide better symptomatic treatment or potentially more definitive care.