Absent anterior cruciate ligament

This case report presents the MRI findings of aplasia of the anterior cruciate ligament with associated hypoplasia of the posterior cruciate ligament (Manner type 2). Radiographically the presence of a shallow femoral notch and hypoplastic tibial spines (the so-called "dromedar" sign) can aid in the diagnosis. Operative treatment is often not indicated since the congenital absence of the ACL implies long-standing altered biomechanics to which the knee has well adapted in the majority of cases

Clinical significance of signal changes in the quadratus femoris muscle on MR

'Objectives: 'To evaluate the clinical significance of quadratus femoris muscle signal changes (QFMC) on MRI. 'Methods: '204 consecutive bilateral MRI hip examinations (132 female, 72 male) were reviewed in retrospect for QFMC. Inclusion imaging parameters were edema or atrophy of the quadratus femoris muscle. The presence or absence of symptoms and additional ipsilateral and/or contralateral imaging findings were used to differentiate between isolated symptomatic, co-incidental and asymptomatic QFMC. 'Results: '24 (11.8%) patients and 30 (7.3%) hips demonstrated QFMC. Atrophy was present in 5 symptomatic hips. Female to male ratio was 23:1. Isolated symptomatic QFMC: 4 hips (13.3%), 1 bilateral. Clinical symptoms in this group were non-specific greater trochanter pain and stiffness of the hip. Co-incidental QFMC: 19 symptomatic hips, ipsilateral associated findings present in 18 hips (94.7%) and contralateral additional findings present in 8 hips (42.1%). Asymptomatic QFMC: 7 hips (23.3%), ipsilateral associated asymptomatic findings in 5 hips (71.4%) and contralateral associated symptomatic findings in 6 hips (85.7%). Edema around the greater trochanter and hamstring insertions were the most frequent associated findings. 'Conclusion: 'In this study, most cases of QFMC were co-incidental or asymptomatic. In isolated symptomatic QFMC clinical complaints were non-specific. Atrophy was found only in the symptomatic hips

Solitary median maxillary central incisor (SMMCI) syndrome

Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline defects of development resulting from unknown factor(s) operating in utero about the 35th–38th day(s) from conception. It is estimated to occur in 1:50,000 live births. Aetiology is uncertain. Missense mutation in the SHH gene (I111F) at 7q36 may be associated with SMMCI. The SMMCI tooth differs from the normal central incisor, in that the crown form is symmetric; it develops and erupts precisely in the midline of the maxillary dental arch in both primary and permanent dentitions. Congenital nasal malformation (choanal atresia, midnasal stenosis or congenital pyriform aperture stenosis) is positively associated with SMMCI. The presence of an SMMCI tooth can predict associated anomalies and in particular the serious anomaly holoprosencephaly. Common congenital anomalies associated with SMMCI are: severe to mild intellectual disability, congenital heart disease, cleft lip and/or palate and less frequently, microcephaly, hypopituitarism, hypotelorism, convergent strabismus, oesophageal and duodenal atresia, cervical hemivertebrae, cervical dermoid, hypothyroidism, scoliosis, absent kidney, micropenis and ambiguous genitalia. Short stature is present in half the children. Diagnosis should be made by eight months of age, but can be made at birth and even prenatally at 18–22 weeks from the routine mid-trimester ultrasound scan. Management depends upon the individual anomalies present. Choanal stenosis requires emergency surgical treatment. Short stature may require growth hormone therapy. SMMCI tooth itself is mainly an aesthetic problem, which is ideally managed by combined orthodontic, prosthodontic and oral surgical treatment; alternatively, it can be left untreated

Prenatal ultrasound and magnetic resonance imaging in fetal varicella syndrome: correlation with pathology findings

Objectives To assess the diagnostic value of prenatal magnetic resonance imaging (MRI) in addition to prenatal ultrasound in a case of fetal varicella syndrome. Methods Comparison of prenatal ultrasound and MRI features obtained at 26 and 32 weeks, respectively, with neonatal imaging (ultrasound, MRI and CT) and macroscopic and microscopic pathology findings in a fatal case of varicella embryopathy. Results Prenatal ultrasound correlated fairly well with neonatal imaging and pathology findings. Most lesions of thoracic, abdominal and retroperitoneal viscera, limb involvement and even dermatologic features were apparent on ultrasonography. Involvement of the CNS, including cerebellar hypoplasia, was not apparent on ultrasound examination, but was clearly demonstrated by prenatal MRI. Conclusion If maternal seroconversion for the varicella-zoster virus is suspected, combining prenatal ultrasound and magnetic resonance imaging may document the extent of tissue damage in fetal varicella syndrome to a larger extent than has been reported until now and therefore contribute to due counselling following maternal varicella exposure. Copyright © 2003 John Wiley & Sons, Ltd

Perinatal cortical infarction within middle cerebral artery trunks

AIM—To define neonatal pial middle cerebral artery infarction.
METHODS—A retrospective study was made of neonates in whom focal arterial infarction had been detected ultrasonographically. A detailed study was made of cortical middle cerebral artery infarction subtypes.
RESULTS—Forty infarctions, with the exception of those in a posterior cerebral artery, were detected ultrasonographically over a period of 10 years. Most were confirmed by computed tomography or magnetic resonance imaging. Factor V Leiden heterozygosity was documented in three. The onset was probably antepartum in three, and associated with fetal distress before labour in one. There were 19 cases of cortical middle cerebral artery stroke. The truncal type (n=13) was more common than complete (n = 5) middle cerebral artery infarction. Of six infarcts in the anterior trunk, four were in term infants and five affected the right hemisphere. Clinical seizures were part of the anterior truncal presentation in three. One of these infants, with involvement of the primary motor area, developed a severe motor hemisyndrome. The Bayley Mental Developmental Index was above 80 in all of three infants tested with anterior truncal infarction. Of seven patients with posterior truncal infarction, six were at or near term. Six of these lesions were left sided. Clinical seizures were observed in three. A mild motor hemisyndrome developed in at least three of these infants due to involvement of parieto-temporal non-primary cortex.
CONCLUSIONS—Inability to differentiate between truncal and complete middle cerebral artery stroke is one of the explanations for the reported different outcomes. Severe motor hemisyndrome can be predicted from neonatal ultrasonography on the basis of primary motor cortex involvement. Clinical seizures were recognised in less than half of the patients with truncal infarction; left sided presentation was present in the posterior, but not the anterior truncal type of infarction. Asphyxia is a rare cause of focal arterial infarction.