Tonći Grmoja

Chemokines CXCL10, CXCL11, and CXCL13 in acute disseminated encephalomyelitis, non-polio enterovirus aseptic meningitis, and neuroborreliosis: CXCL10 as initial discriminator in diagnostic algorithm?

We investigated potential diagnostic usefulness of serum and cerebrospinal fluid (CSF) concentrations of chemokines CXCL10, CXCL11, and CXCL13 in pediatric patients with acute disseminated encephalomyelitis (ADEM) (n = 23), non-polio enterovirus aseptic meningitis (NPEV AM) (n = 20), and neuroborreliosis (NB) (n = 21) and children with acute infectious diseases with neurological symptoms but with excluded neuroinfection/neuroinflammation (controls, n = 20). CSF levels of CXCL10 and CXCL11 were higher in patients with NPEV AM than those in other children, and CXCL10 levels showed a high discriminative potential (area under the receiver operating characteristic curve, ROC, 0.982) with high specificity and sensitivity (both 95%). CSF levels of CXCL13 were higher in NB patients than those in other children; however, discriminative potential (area under ROC curve 0.814) and diagnostic properties were moderate (sensitivity 67%, specificity 97%). Data suggest usefulness of chemokine quantification as a diagnostic aid in children with suspected ADEM, NPEV AM, or NB.

Lemierre Syndrome in Adolescent with Active Ulcerative Colitis

Inflammatory bowel disease (IBD) is a well-recognized risk factor for thrombotic events in adults but data on children are scarce. In the great majority of adult patients, thrombotic events are usually deep vein thrombosis and pulmonary embolism. Other sites such as jugular veins are extremely rare. We present a case of Lemierre syndrome in an adolescent girl with active ulcerative colitis and discuss possible risk factors. This is the first reported case of severe Lemierre syndrome with thrombus extension to cranial veins in a patient with ulcerative colitis. Early recognition of Lemierre syndrome in patients who present with rapidly worsening symptoms of neck pain, fever and signs of pharyngitis is imperative because it increases a chance of favorable prognosis. It is important for pediatricians treating IBD patients not to underestimate possible thrombotic events in children with IBD. Recognition of additional risk factors is crucial for prompt diagnosis and adequate treatment.

Cervicofacial subcutaneous emphysema after facial cosmetic procedure in an 11-year-old girl

Cervicofacial subcutaneous emphysema resulting from maxillofacial surgery and dental procedures is well described in the literature. Other causes include facial and chest trauma, infections, iatrogenic causes such as endotracheal intubation, positive pressure ventilation and cryotherapy. We report an 11-year-old girl who presented to the emergency department with swelling of her right cheek and neck. The swelling began soon after a cosmetic procedure for acne: mechanical cleaning of the skin pores followed by oxygen facial therapy. She also experienced a popping sensation, along with discomfort and swallowing difficulties. She had no significant medical history. There was no history of other traumatic events. She previously had the same cosmetic procedure four times without complications. On examination she had right hemifacial and neck swelling with crepitus and mild pain on palpation. There were no systemic symptoms of infection or fever. There were no signs of dyspnoea or chest pain. A standard craniogram revealed s.c. air in the right cheek and neck consistent with the diagnosis of cervicofacial s.c. emphysema (Fig. 1a,b). There was no signs of pneumomediastinum on a chest radiogram. Ultrasonography confirmed an echogenic interface anterior to muscles, which obscured the view of the structures other than skin and fat tissue. Her blood test results were unremarkable. The patient was admitted for monitoring and managed conservatively with the antibiotic clindamycin as a prophylaxis for infection. The emphysema gradually resorbed within 2 weeks. S.c. emphysema arises when air is forced beneath the tissues, leading to swelling, crepitus on palpation, and the potential of the air to spread along the fascial planes. Usually cervicofacial s.c. emphysema is a benign and self-limiting condition, although it also may have life-threatening complications such as pneumothorax and pneumomediastinum, cardiac tamponade, air embolism, tracheal compression and mediastinitis. A comprehensive search of medical literature in PubMed showed that s.c. emphysema from a facial injury is rare and its extension into the cervical and mediastinal tissues is uncommon. We could find no case of facial s.c. emphysema caused by cosmetic procedures. Mechanical cleaning of facial skin pores is a commonly used cosmetic procedure for acne, while oxygen facial therapy is a recently introduced method. Oxygen therapy is typically performed using a small pen-like device called an airbrush, which is used to deliver high-pressure oxygen into the epidermis. It is presumed that oxygen has an antibacterial and restorative effect on the skin. We assume that in our patient the s.c. emphysema was a result of a small mechanical skin injury immediately followed by the application of high-pressure oxygen.

MASA syndrome in twin brothers: case report of sixteen-year clinical follow up

MASA syndrome (OMIM 303350) is a rare X-linked recessive neurologic disorder, also called CRASH syndrome, spastic paraplegia 1 and Gareis-Mason syndrome. The acronym MASA describes four major signs: Mental retardation, Aphasia, Shuffl ing gait and Adducted thumbs. A more suitable name for this syndrome is L1 syndrome because the disorder has been associated with mutations in the neuronal cell adhesion molecule L1 (L1CAM) gene. The syndrome has severe symptoms in males, while females are carriers because only one X chromosome is aff ected. The aim of this report is to show similarities and diff erences in clinical manifestations between twins with the L1CAM gene mutation and to emphasize the importance of genetic counseling. Our patients were dizygotic twins born prematurely at 35 weeks of gestation. Pregnancy was complicated with early bleeding and gestational diabetes. Immediately after birth, hypertonia of lower extremities was observed in both twins. Sixteen-year clinical follow up showed spastic paraparetic form with shuffl ing gait, clumsiness, delayed speech development, lower intellectual functioning at the level of mild to moderate mental retardation, primary nocturnal enuresis, behavioral and sleep disorder (more pronounced in the second twin). Magnetic resonance imaging of the brain showed complete agenesis of the corpus callosum, complete lack of the anterior commissure, and internal hydrocephalus. Electroencephalograms showed nonspecifi c slower dysrhythmic changes. Kidney ultrasound showed mild dilatation in the channel system of both kidneys in both twins. Ophthalmologic examination was normal. Molecular genetic testing identifi ed homozygous intron 26 L1CAM gene IVS26-12G→A mutation in both twins. The mother is carrier of the same heterozygous mutations. In conclusion, our patients, fraternal twins, show similar clinical changes typical of the MASA syndrome. After identifying the specifi c genetic mutations, this family has become eligible for genetic counseling and informative for prenatal diagnosis.