Clinical Case Reports

Varicella zoster virus (VZV) primo-infection can be severe in the elderly and in immunocompromised patients. Atypical presentations are not uncommon and may mislead the diagnosis and delay adequate treatment. Valacyclovir prophylaxis should be systematically proposed in immunocompromised patients.

Herein, we report a conceptually novel clinical case highlighting the diagnostic implications of excessive homozygosity and its correlation with brain MRI abnormalities in an infant with GA1. The case also points a need for an extra amount of caution to be exercised when evaluating patients with “negative exomes.”

Nasogastric (NG) tube is frequently used in clinical practice for a variety of indications; however, NG tubes are not without risks, and there are a multitude of gastrointestinal complications that are associated with their use. Simple precautions can help prevent these NG tube-related injuries.

Juvenile nasopharyngeal angiofibroma (JNA) involves difficult anesthetic management because of the risk of massive bleeding, while airway management is rarely a problem in JNA. This report presents an unusual case of JNA causing airway obstruction. The appearance of the tumor in the oral cavity may help to predict difficult airway.

Dysphagia can be caused by many different underlying conditions. The assessment and management of dysphagia depend on each individual patient, often requiring a multidisciplinary approach. Structural cause of dysphagia can be dealt with using endoscopic interventions before the patient's general status deteriorates.

This article reports the oral manifestations of an unusual presentation of Marfan syndrome (MFS) and provides an evidence to the importance of recognizing the oral features in confirming the diagnosis of MFS. Dentists have a vital role in confirming the diagnosis of developmental disorders that involve the craniofacial compendium.

We describe the induction of a masquerading bundle branch block in two patients with Brugada syndrome following the administration of Ajmaline. The development of this conduction disturbance prevented the correct electrocardiographic diagnosis. However, the simultaneously obtained vectocardiogram identified both the Brugada pattern and the masquerading bundle branch block.

Pharmaceutical excipients need careful observation as they play a significant role in treatment outcomes. It is imperative for a physician to collect complete patient profile before prescribing new medications for current treatment. We present a case report on the significance of pharmaceutical excipients in prescribed medicines.

Peripheral nerve injury following the use of arterial tourniquets is a rare but potentially debilitating complication. Further education on the safe and appropriate practice of tourniquets is imperative to reduce the incidence of tourniquet-related complications.

If an infant with cystic fibrosis exhibits failure to thrive, despite adequate disease management, Silver–Russell syndrome should be considered, given the locations of these conditions in the genome. However, an earlier clue to the diagnosis is small-for-gestational-age birth.

Patients with multiple myeloma may present with several signs and symptoms, inclusive of hemorrhagic diathesis. This case emphasizes the need to suspect uncommon etiologies for common signs and to be aware of the atypical effects of paraproteinemia.

A patient with Klippel–Feil syndrome presented with hydrocephalus secondary to intraventricular hemorrhage. Fusion of the cervical vertebrae may have impeded cerebrospinal fluid flow. Change in the properties of cerebrospinal fluid flow after hemorrhage may have induced noncommunicating hydrocephalus. Endoscopic third ventriculostomy was effective for the treatment of hydrocephalus associated with Klippel–Feil syndrome.

Mutations in the SCN5A gene are linked to both the long QT syndrome 3 and Brugada syndrome with few reports describing an overlapping phenotype. We present a unique case and discuss clinical considerations of a patient concurrently exhibiting such conditions with genetic analysis confirming an SCN5A mutation.

We report a young child without a family history of FAP, who promptly underwent APC testing after the histological confirmation of a paraspinal GAF that was not isolated. Our case report reinforces the suggestion advanced by previous authors for an APC analysis in all patients with GAF.

Oral bacteria cause infective endocarditis (IE), so severe periodontitis is thought to be high risk for IE. We suggest the identification of high-risk patients by an IgG antibody titer test against periodontal bacteria might become common screening test.

In young patients with T1D, an inherited prothrombotic risk factor, including factor V Leiden G1691A gene mutation, should be considered during an event of thrombosis. In young patients with T1D affected by thrombophilia, neurological manifestations of cerebral hypertension should suggest the possibility of a cerebral vascular sinus thrombosis. In T1D, improving the glycemic control is the first factor that should be controlled in a patient who carries a genetic prothrombotic risk factor. Long-term antithrombotic treatment with tinzaparin 175 IU/kg/day, a low-molecular weight heparin (LMWH), is reliable and well tolerated, although an indefinite special follow-up, including neurological controls, is advisable even in asymptomatic patients.

Calciphylaxis is a clinical syndrome of arteriolar calcification with resultant tissue necrosis, most commonly seen in patients with end-stage renal disease (ESRD) on dialysis. This condition carries a high mortality rate mainly due to infection. Helpful interventions include adequate dialytic therapy, medical management of hyperparathyroidism, hyperphosphatemia, and intravenous sodium thiosulfate therapy.

Catheter ablation of atrial fibrillation is difficult when the left atrium is compressed by the vertebra. The heart may shift forward, and compression of the left atrium may be relieved in the left lateral decubitus position. Therefore, catheter ablation could be performed in the left lateral decubitus position even in such cases.

Spontaneous delivery through a cervical tear, provoked by prostaglandin-induced uterine contractions, was described in a G2P0 woman with a history of cervical dilatation and uterine curettage. This rare complication with potentially serious maternal–fetal consequences can be predicted by an aberrant cervical response to prostaglandins in parturients with previous cervical interventions.

Chromosome 10p deletion is a rare disorder. This is the largest deletion in chromosome 10p reported to date and the first to be diagnosed in the early neonatal period because of severe clinical manifestations. This rare case might help to understand the genotype-phenotype spectrum in infants with 10p deletion.