Jornal de relatos de casos clínicos

SHORT syndrome is a rare inherited condition and incidence of patients is unknown. Multiple anomalies (acronym SHORT) whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which are the main manifestations of the disease. The diagnosis of SHORT syndrome is based on physical findings, X-rays, and molecular genetic testing. The aim was to present a case extremely rare genetic condition characterised by short stature, dysmorphic features. Our patient shows most common signs and symptoms of SHORT syndrome except Rieger anomaly, lipodystrophy, hyper extensibility of joints. Such anomaly is considered as typical (element of set of symptoms listed in acronym SHORT) but not necessary to diagnose such syndrome.

Background: Endothelial dysfunction in the maternal circulation is an early finding during preeclampsia. Early diagnosis is very important to protect from maternal and neonatal morbidity we aimed to investigate the Vascular Endothelial Growth Factor (VEGF), anti-angiogenic VEGFR-1 (sVEGFR-1) or soluble FMS-like tyrosine kinase-1 (sFlt-1), and angiogenic PlGF using uterine artery Doppler ultrasonography and to evaluate placental vascular and fetomaternal blood flow changes.
Methods: This cross-sectional study included a total of 64 pregnant women aged between 15 and 40 years who were in their 20 to 24 weeks of gestation and who were at a risk of developing preeclampsia. The patients were reexamined after delivery and divided into two groups according to those who developed preeclampsia/IUGR (n=9/7) and those who did not (n=48). We compared the VEGF, sFlt1 and PlGF using uterine artery Doppler ultrasonography changes.
Results: Univariate analysis results of potential factors for preeclampsia were insignificant except age (p=0.047) and body mass index (0.004). In our ROC curve, the pvalue was found to be significant.
Conclusion: Our study results demonstrated that biochemical and radiologic markers did not give any clues for early diagnosis at the 20 to 24 weeks of gestation.

Dystonic tremor is defined as tremor in a body part affected by dystonia, this involves: tremor in an extremity or body part that is affected by dystonia, focal tremors, usually with irregular amplitudes and variable frequency (mainly less than 7 Hz), and mainly postural or kinetic tremors, usually not seen during complete rest. Hemi body movement disorder are often considered to be non-primary movement disorder and usually attributed to secondary causes, including environmental, vascular, neoplastic, and infectious. We report 14-year-old male patient presented with progressive left hemi body dystonic tremor which started from left upper limb and progress to left lower limb over a period of three years. He had associated global type of headache which worsens during morning period. No family history of same illness, normal prenatal history, no birth trauma. Physical examination revealed dystonia of left upper limb and lower limb (upper limb>lower limb) mixed with rhythmic tremulous movement of mainly left upper limb. Fundus examination revealed pappiledema bilaterally. Normal liver function test, normal abdominal ultrasound and negative HIV serology. No MRI was performed due to financial reason, but brain CT-scan showed calcified; mildly contrast enhanced Intraventricular mass extending from foramen magnum to lateral ventricle, displacing the septum pallidum to right side and bilaterally dilated lateral ventricle, with possible pressure effect on right basal ganglia. Following brain imaging diagnosis of left hemi dystonic tremor secondary to Intraventricular mass was made and patient was started on low dose clonazepam for symptomatic relief and given appointment for neurosurgical evaluation. Even though secondary/symptomatic causes of movement disorder is uncommon, it’s important to think of secondary causes in patient whom present with hemi body movement disorder, like our patient, as some of the underlying causes could be easily treatable and the symptoms could be relieved if managed early.

We present a rare case of isolated metastases in right infraclavicular region following a Robot assisted radical cystectomy, which is not yet reported in the literature.

Avian mite dermatitis is a skin affliction of mammals, including humans caused by bites of nidicoulous, haematophagous mites in the suborder Mesostigmata, which naturally parasitize birds. The red-mite, Dermanyssus gallinae is the most common species implicated in episodes of dermatitis in city-dwellers, worldwide. Symptoms manifest in the form of pruritic, erythematous papules on exposed/covered body areas. We report 20 urban outbreaks of red-mite dermatitis occurring in Southern Italy from 2001 to 2017 (June) and diagnosed through parasitological identification by veterinarian entomologists. The patients, a total of 54 subjects, were infested in their homes/ workplaces by both mites emigrating indoors from deserted nests of sinantropic birds close to the infested edifices and from pet canaries. Red-mites may be the explanation of cases of pruriginous dermatitis of obscure origin in citydwellers. The applying of the One Health approach is crucial for diagnosis, treatment and prevention of dermatitis by epizoonotic ectoparasites.

Neuropsychiatric and renal involvement are common in systemic lupus erythematosus with negative impact on patient survival. Glucocorticoids, antiproliferative and cytotoxic agents represent first-line therapies, but are often ineffective and are burdened by significant toxicities. Despite the negative results of two randomized controlled trials, rituximab is still widely used as second- or third-line therapy in similar cases. No case has been reported so far where rituximab has been used as first-line therapy.

We report the case of a 60-year-old cCaucasian woman with concurrent neuropsychiatric and renal lupus erythematous treated with one cycle of rituximab therapy at disease onset. Treatment was well tolerated and at 24 months the patient is in complete remission and free of immunosuppression. To the best of our knowledge, this is the first case of neuropsychiatric and renal lupus erythematosus successfully treated with rituximab as first-line therapy.

Some infants with androgen insensitivity syndrome (AIS) reportedly develop inguinal hernia (IH). These infants’ testes are mostly located in the proximal deep inguinal ring or abdominal cavity. There are few reports on testes present in the labia majora (distal to the superficial inguinal ring) in newborns; however, there is no report on testes fixed to the labia majora that were preserved and moved into the abdominal cavity. Here two cases of successful laparoscopic hernia repair and orchiopexy to move the testes from the labia majora into the abdominal cavity in pediatric patients with AIS having IH are reported.

Primary ciliary dyskinesia is a rare genetic disease. It is an autosomal recessive inherited disease. This rare disease affecting the respiratory system exposes the child to numerous new and, simultaneously, difficult situations that would be a significant challenge in the normal functioning for an adult.

Nursing care over the patient suffering from primary ciliary dyskinesia creates numerous nursing problems for the patient treated both in home conditions as well as hospital ones. Good knowledge of the patient, his or her ailments, attitude towards the disease as well as planned and implemented treatment methods play an important role. It is essential to collect as much information about the child and his or her family as possible to plan care over the patient properly. The theory of Marjory Gordon may be helpful in this issue.

Cycloserine is one of the second-line anti-tuberculosis drugs used for treating multidrug-resistant tuberculosis (MDR-TB). Psychiatric and neurologic adverse reactions of cycloserine are commonly observed; however, fever as its only adverse reaction was rare. Here we report a case of cycloserine-induced fever in a 23-year-old female patient with MDR-TB and its successful management. After desensitization, the patient was able to continue the treatment regimen for MDR-TB and her symptoms were improved significantly. Our case indicates that fever could be the only adverse reaction of cycloserine in a patient who uses cycloserine as part of a treatment regimen for MDR-TB and the fever is manageable.

Here, we reported a case who underwent Transcatheter Aortic Valve Implantation (TAVI) which was complicated with aortic regurgitation. Echocardiography revealed both trans- and para valvular regurgitation. Unfortunately, the patient died of congestive heart failure. From autopsy findings, there observed the small space between transplanted valve and aortic wall and the incomplete valve closure both of which were coincided with echocardiographic findings. We suggest that careful observation by echocardiography can detect aortic regurgitation which could be one the factors for determining outcomes after TAVI.