Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in TK2 gene.

The mitochondrial DNA depletion syndrome (MDDS) is characterized by extensive phenotypic variability and is due to nuclear gene mutations resulting in reduced mtDNA copy number. Thymidine kinase 2 (TK2) mutations are well known to be associated with MDDS. Few severely affected cases carrying the c.416C > T mutation in TK2 gene have been described so far. We describe the case of a 14months boy with the aforementioned TK2 gene pathogenic mutation at a homozygous state, presenting with a mild clinical phenotype. In addition to severe mitochondrial pathology on muscle biopsy, there was also histochemical evidence of adenylate deaminase deficiency. Overall, this report serves to further expand the clinical spectrum of TK2 mutations associated with MDDS.

When a pedodontic examination leads to the diagnosis of osteopetrosis: A case report.

BACKGROUND/AIM: Osteopetrosis is an inherited disease characterized by increased bone density. Its genetic variability results in various phenotype expressions, whereas clinically are classified in three types: malignant infantile, intermediate and adult. The various oral manifestations of the disease give a crucial role to the pediatric dentists in diagnosis. CASE PRESENTATION: A 7-year-old girl with persistent swelling on right cheek visited a pedodontic clinic. After extra- and intra-oral examination/findings, the patient was referred for further investigation concerning a possible general pathological background. An extraction, included in the initial dental treatment plan, led to the diagnosis of osteopetrosis. Various medical examinations co-led to the diagnosis of osteopetrosis but without genetic identification. Extractions of carious teeth, under general anesthesia, and full cover or sealants, on chair, of unaffected teeth were conducted respectively to minimize the microbial load and to prevent from osteomyelitis relapse and new caries. Two more general anesthesia sessions took place due to relapse of lower jaw osteomyelitis. Follow-up was conducted every 3 months for 2 years. CONCLUSION: Osteopetrosis' diagnosis can be triggered by its oral manifestations (rampant caries, osteonecrosis, enamel defects, malformed roots/crowns, missing teeth), for which the pediatric dentist could be the first observer. Management of these patients needs multidisciplinary approach and follow-up appointments should be very frequent.

Clinical course and seizure outcome of idiopathic childhood epilepsy: determinants of early and long-term prognosis.

BACKGROUND: Idiopathic epilepsies and epileptic syndromes predominate childhood and adolescence epilepsy. The aim of the present study was to investigate the clinical course and outcome of idiopathic childhood epilepsy and identify variables determining both early and long-term prognosis. METHODS: We followed 303 children with newly diagnosed idiopathic epilepsy aged 1-14 years old, both prospectively and retrospectively. Outcome was defined at one, 2 and 4 years of follow-up, as well as at the end of the study period for all patients. Based on the data collected, patients were classified in four patterns of clinical course: "excellent", "improving", "relapsing" and "poor". Variables defined at intake and after the initial year of treatment were analyzed for their prognostic relevance towards the clinical course and outcome of the patients. RESULTS: The mean age at seizure onset was 6.7 years and the mean duration of follow-up was 8.3 years (range 2,0-22,0,SD 4,24). During the initial year of treatment, 70,3% of patients were seizure-free. The course of epilepsy was "excellent" in 53,1% of the subjects, "improving" in 22,8%, "relapsing" in 22,1% whereas only 6 children with idiopathic epilepsy (2%) had a "poor" clinical course exhibiting drug-resistance. After multivariate analysis, variables predictive of a poor initial response to therapy were early seizure onset, multiple seizure types and history of status epilepticus. At the end of follow-up, early response to treatment was of significant positive predictive value, while the presence of multiple seizure types and the history of migraine had a negative impact on prognosis. CONCLUSIONS: In the vast majority of children, the long-term prognosis of idiopathic epilepsy is favorable. More than half of the patients attain seizure freedom immediately and their clinical course is considered "excellent". About one fifth exhibit either an improving or a fluctuating course. Early seizure onset, multiple seizure types and status epilepticus are predictive of an initial poor response to treatment in children with idiopathic epilepsy. Initial non-response to treatment, multiple seizure types and history of migraine are determinants of a less favorable final outcome after long-term follow-up.

A patient with Lemierre syndrome.

Lemierre syndrome, also known as postanginal sepsis, is a severe complication of an acute oropharyngeal infection that results in septic thrombophlebitis of the ipsilateral internal jugular vein with subsequent septicemia, often complicated by metastatic infections (Syed et al., Laryngoscope 117:1605-1610, 2007). We present the case of a previously healthy 12-year-old boy with Lemierre syndrome, caused by streptococci (Abiotrophia defectiva), complicating a subcutaneous neck abscess. The patient had metastatic sequelae, was treated with antibiotics (clindamycin and vancomycin) and low molecular weight heparin, and had an uneventful outcome.

Eponym: the Lemierre syndrome.

Fig. 1 Dr. Andre Lemierre Lemierre syndrome, also known as postanginal sepsis, is a severe complication of an acute oropharyngeal infection that results in septic thrombophlebitis of the ipsilateral internal jugular vein with subsequent septicemia, often complicated by metastatic infections. The usual agent in Lemierre syndrome is Fusobacterium necrophorum, a commensal bacillus of the oral cavity. After the advent of antibiotic therapy, especially in the 1960s and 1970s, when penicillin was frequently used to treat pharyngeal infections, Lemierre syndrome was often referred to as the "forgotten disease". Today with increasing antibiotic-resistant organisms and decreasing awareness of the syndrome, subsequent reemergence of this syndrome is becoming more common in clinical settings. The syndrome starts initially as an acute oropharyngeal infection followed by septicemia with intense fevers, rigors, swelling, and tenderness on the lateral aspect of the neck, parallel to the sternomastoid muscle (septic internal jugular vein thrombophlebitis), and multiple metastatic infections.

Pseudoaneurysm of the popliteal artery complicated by peroneal mononeuropathy in a 4-year-old child: report of a case.

Pseudoaneurysms of the popliteal artery (PPA) rarely occur in children. In fact, we found only 10 cases reported in the medical literature. We report the case of a 4-year-old boy who presented with a painful palpable mass in the right popliteal fossa. He also had mild, painless right foot-drop and difficulty toe-walking on the same side. The diagnosis of a PPA was based on the findings of triplex ultrasound and computed tomographic-angiography. We attributed the cause of the lesion to blunt trauma, which he had suffered 2 years earlier. Thorough preoperative evaluation excluded the possibility of a self-immune process or a bone tumor in the region. Neurological examination demonstrated a mild, isolated, peripheral mononeuropathy of the right peroneal nerve. Thus, we performed surgical repair using an autologous reversed great saphenous vein graft. The patient had an uneventful postoperative course and his peripheral neuropathy and foot-drop resolved completely within 1 month after surgery. Now, after 3 years of follow-up, the patient has a patent graft and a fully functioning limb. PPAs are rare, especially in children, and trauma is the predominating underlying cause. PPAs should be treated immediately after diagnosis because their complications are associated with high rates of functional impairment and even limb loss.