Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) is a unique disease of unknown etiology with a childhood predilection. Reports have established the worldwide distribution of the disorder. Although peripheral lymphadenopathy is the most common mode of presentation, numerous studies and individual case reports have established the fact that 30-40% of affected individuals have extranodal manifestations particularly in the head and neck region where the adenopathy tends to be concentrated. As yet, the pathogenesis of SHML has not been established but speculation relates the disorder to an aberrant response to an unspecified antigen, possibly an infectious organism. Because of the clinical manifestations, the radiographic features of SHML are not pathognomonic but rather engender a differential diagnosis which includes lymphomatous, pseudolymphomatous and infectious conditions. Appropriate imaging of patients with SHML depends upon presenting symptoms and signs. Radionuclide bone scanning may be helpful in the evaluation of suspected skeletal lesions or joint symptoms. Gallium scanning is often positive in nodal disease and CT, MRI and sonography are helpful in the evaluation of extranodal sites of involvement such as the orbit, eyelid, upper aero-digestive tract and retroperitoneum.
Severe cervical spine stenosis with cord compression has not been well documented in brachytelephalangic chondrodysplasia punctata. We report two boys with phenotypic features of brachytelephalangic chondrodysplasia punctata who had severe cervical spine stenosis secondary to dysplastic cervical vertebrae, and discuss the significance of this association and its relation to the phenotypically similar Binder phenotype.
Pulmonary sequestration is a spectrum of related lesions, each of which may be absent or present: (1) bronchial sequestration of pulmonary parenchyma; (2) arterial supply from systemic circulation; (3) anomalous pulmonary venous drainage to the right atrium; (4) communications between bronchus and esophagus; (5) defects of diaphragm; (6) gross lung anomalies, such as horseshoe lungs or hypoplasia. Any combination of these primary lesions can occur in an individual patient. Diagnosis should be directed towards each component of the spectrum. Of special importance is the venous connection, as anomalous pulmonary venous drainage can involve not only the sequestered segment but the entire ipsilateral lung, making surgical therapy far more complex. Treatment of choice is surgical resection, associated, if needed, with rerouting of the pulmonary venous return. Classification of sequestration of the lung as intra- and extralobar is of secondary importance: these 2 groups do not represent lesions of different embryological significance.
A full-term infant boy was born at term by elective Caesarean section after a pregnancy complicated by an intrauterine sonogram at 18 weeks, which demonstrated a right intracranial cyst. The child was noted to have somatic asymmetry with right hemihypertrophy and a large head. A slight yellowish hyperpigmented linear skin lesion was present in the midline along the nose extending to the lip. The child had frequent seizures during the first 2 weeks of life, which became too numerous to count and difficult to control. The seizures consisted of brief eye flutter or whole body tonic-clonic seizures. The child became progressively more lethargic and did not feed well. Cranial magnetic resonance imaging (Figure 1) was performed.
DENOUEMENT AND DISCUSSIONThe MRI of the head demonstrates the presence of hemimegalencephaly (HME) with an enlarged hemisphere with mass effect, but with a dilated lateral ventricle. A renal sonogram demonstrates asymmetric kidneys with the right being larger and containing small cysts. The cutaneous lesion was diagnosed as an epidermal nevus or linear nevus sebaceous. The child, therefore, is thought to have the linear nevus sebaceous syndrome (LNSS; Feuerstein-Mims syndrome) with HME.
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