Neurocutaneous melanosis. Case report and literature review

Neurocutaneous melanosis is characterized by an increased number of melanocytes and melanin deposit in central nervous system associated with giant melanocytic congenital nevi. Patients with multiple satellite nevi or giant cutaneous melanocytic nevus in a midline location (overlying the back, neck or head) have more likelihood of having neurocutaneous melanosis. In most patients, the neurocutaneous melanosis is asymptomatic, only detectable by MRI; nevertheless, those patients with clinical manifestations have a poor prognosis, dying within 3 years of initial neurological manifestations. We present a patient with giant melanocytic congenital nevi and multiple satellite nevi associated with asymptomatic neurocutaneous melanosis. We emphazise the importance of multidisciplinary evaluation in order to detect early neurological symptoms and/or melanoma.     

Kenny-Caffey syndrome. Case report and literature review

Kenny-Caffey Syndrome is a rare syndrome characterized by growth retardation, uniformly small slender long bones with medullary stenosis, thickened cortex of the long bones, hypocalcemia possibly with tetany at an early age, hyperphosphatemia, ocular abnormalities, and normal intelligence. We report a child with Kenny-Caffey Syndrome and idiopathic hypoparathyroidism and present a review of the literature summarizing the reported cases of this rare syndrome.     

Cerebrocostomandibular syndrome. Case report and literature review

Cerebrocostomandibular syndrome (CCM) is characterized by micrognathia, cleft palate, rib defects, and frequently, mental deficiency. Death from respiratory complications occurs in 40 percent of cases before they reach 1 year of age. We describe a case of CCM with the previously unreported findings of large for gestational age at birth, radiologic evidence of bilaterally displaced radial heads, and development of brachycephaly.     

Frontonasal dysplasia. Case report and review of the literature

FND is a non-uniform malformation complex with symptoms ranging between severe hypertelorism with bidfid nose and cranium bidfidum occultum with agenesis of the corpus callosum. Etiology and pathogenesis are discussed on the basis of a case history and some hints regarding differential diagnosis and genetic counselling are given. The exclusively sporadic occurrence of FND tells against a hereditary pathomechanism. Consequently, there is no recurrence risk. However, in families with an affected child, malformations generally tend to occur a little more often.     

Malignant ectomesenchymoma. Case report and review of the literature.

Malignant ectomesenchymoma is an uncommon neoplasm composed of neuroectodermal elements and one or more mesenchymal neoplastic elements. It is believed to arise from remnants of migratory neural crest cells (ectomesenchyme). The authors report the clinical and pathological findings of a 3-year-old girl with malignant ectomesenchymoma of the CNS. Embryogenesis of this tumor is discussed, and a review of the literature with 39 other cases is done.     

Townes-Brocks syndrome. Case report and review of the literature]

We report on a 14 months old Turkish girl with bilateral triphalangeal thumb and preaxial hexadaktyly on her left hand, bilaterally missing third toes and "Satyr-ears" as typical features of Townes-Brocks Syndrome. Besides reviewing all previous publications we discuss frequency and significance of all features--especially of anorectal malformations and the third missing toe.     

Acute inclusion-body leukemia. Case report and review of literature

An unusual case of acute leukemia with basophilic cytoplasmic inclusion bodies in a child is described. Certain aspects of the case suggested a lymphoblastic phenotype and others a myeloid origin. The inclusions stained positively for acid phosphatase and toluidine blue. Too few patients have been reported to determine the prognostic significance of acute leukemia with inclusion bodies.     

Fatal nonpowder firearm wounds: case report and review of the literature

A previously unreported fatality due to a head wound from a CO2-powered BB pistol is described. In a review of the English language medical literature (primarily forensic), ten previous reports of fatality due to nonpowder firearms were found. A common mechanism is identified in the head wounds leading to fatality. Modern day technology has elevated the BB gun from toy to weapon. Often appearing trivial, BB and pellet gun injuries must be considered in the same class as those from small-caliber low-velocity powder firearms. A patient with a nonpowder firearm injury must be evaluated with a high index of suspicion for injuries that are not apparent during a general physical examination.     

Acute complicated sphenoiditis in childhood. Case report and literature review

In ENT practice, acute uncomplicated sphenoiditis is rarely diagnosed: very often diagnosis is involved for multiform and unspecific symptomatology, such as to sham nervous, visual and upper respiratory tract diseases. Only a careful differential diagnostics and an instrumental investigation consents to realise quickly a specific treatment, avoiding some complications, still frequent. This case-report, underlines that the polyspecialists' co-operation is necessary to make a correct diagnosis, and to avert important and dangerous complications into shapes of sphenoiditis.     

Pharyngostoma: Case report and review of the literature

We present a newborn with a complete congenital pharyngocutaneous fistula located in the midline of the neck at hyoid-bone level. Surgical treatment consisted of closure of the margins at two levels. We did not find any similar case in the literature. Possible alterations during embryological development that might have caused this malformation are discussed. Correspondence to: C. Benlloch Sanchez     

Occipital condyle fractures in children. Case report and review of the literature

Occipital condyle fractures (OCF) are seldom described in children, with only 14 cases reported in the literature. We report the observation of a 13-year-old child in whom such a fracture was diagnosed. A review of the paediatric cases allowed us to identify the clinical features of OCF in children. The average age was found to be 10 years, and the causative traumatism was most often related to road traffic or sporting accidents with associated head injury. The level of consciousness was depressed in 67% of the cases, and in 53%, an injury to the cranial nerves, brain stem or high spinal cord was present. Neck pain with reduction of head mobility was reported in 27% of the cases. Treatment was generally conservative, i.e. a hard collar or halo vest for an average of 8 weeks. The course was favourable with respect to osseous consolidation, mobility and pain. On the other hand, the neurological deficits improved, but sequelae remained. Early diagnosis and treatment is mandatory since the secondary displacement of fractured fragments can injure the cranial nerves in a delayed fashion or even be fatal due to compression of the brain stem.     

Spinal intradural-intramedullary cavernous malformation. Case report and literature review

Cavernous angiomas or cavernomas are uncommon vascular malformations of the central nervous system and spinal involvement is much rarer especially in pediatric patients. We report a case of spinal intradural-intramedullary cavernous angioma in a 14-year-old male child. The cavernoma was located at the level of C6-C7 at the dorsal part of the spinal cord. The diagnosis was made with MRI and the patient underwent surgical treatment. The cavernoma was totally removed with laminotomy and microsurgical techniques. Somatosensory evoked potential monitoring was also used peroperatively. The clinical, radiological and surgical features of this rare case were presented and discussed with reference to the literature.     

Acute idiopathic pulmonary haemorrhage in infancy: case report and review of the literature

This report presents the case of a 4-month-old male infant with recurrent bouts of haemoptysis for which no cause could be detected after extensive investigation. Literature reports of this condition from other geographic locations around the world are reviewed, together with epidemiologic studies attempting to provide a link with certain environmental exposures, toxic and infectious. A diagnostic entity of acute idiopathic pulmonary haemorrhage in infancy has recently been proposed. To my knowledge, this is the first case reported from New Zealand. Although the incidence of such reported cases appears to be rare, they constitute an interesting public health problem, particularly because some of the risk factors appear to overlap with risk factors for sudden infant death. They can therefore trigger an investigation into the home and outdoor environments, and may provide valuable insights into a possible underlying genetic factor and potentially harmful exposures in the modern urban or rural settings.     

Intramedullary spinal teratoma and diastematomyelia. Case report and review of the literature.

The authors present a patient with diastematomyelia and a spinal intramedullary teratoma, remote from the split cord malformation. A split cord malformation at the L2-L3 level was initially discovered during investigations for thoracic congenital scoliosis, and this was treated surgically. The teratoma, which was at the level of the scoliosis, went undiagnosed until neurological deterioration occurred many years later. Surgical removal of the teratoma resulted in return to normal function. The potential for coexisting congenital anomalies at separate levels of the spinal cord must be considered in radiological investigations of a developmental spinal lesion.     

Varicella-associated arthritis occurring before the exanthem. Case report and literature review

Varicella-associated arthritis represents an uncommon complication of varicella in children. In 20 previously reported cases, three were documented to be bacterial in origin. Viral isolation from synovial fluid was attempted in seven others, and varicella was isolated in just two. In all previous case reports, the arthritis occurred after or coincident with the onset of varicella. The current case is one in which joint involvement preceded the clinical onset of varicella. Clinicians should be alert to the possibility that varicella may manifest as an acute arthritis, even in the absence of the typical exanthem.     

Chemotherapeutic response in metastatic medulloblastoma: report of two cases and a review of the literature

Metastatic medulloblastoma is a rare clinical phenomenon. Review of the literature and the authors' experience reveals that when it occurs, palliation may be achieved with a variety of single and combination chemotherapy programs. Two objective responses with vincristine-actinomycin-D-cyclophosphamide (VAC) and one each with adriamycin and methyl-CCNU are described.