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CASE A 21-year-old woman in her second pregnancy was referred to our Maternal-Fetal Unit for abnormal fetal growth detected during a 23-week routine scan. Her husband was 29 years old and this baby was his first. There was neither consanguinity nor any family history of congenital anomalies. Fetal detailed ultrasound findings (Accuvix V10, Medison, Seoul, Korea) were cranial suture diastasis (Figure 1a), nasal bone hypoplasia (Figure 1b), cranial bones and clavicles hypomineralization (Figures 1b and c), maxillary hypoplasia (Figure 1d), cerebellar vermis hypoplasia (Figure 2a) and low-set ears (Figure 2b). With this prenatal information the first diagnosis proposal was cleidocranial dysplasia. Karyotype analysis was suggested but impossible to realize due to administrative red tape. In prenatal ultrasound follow-up an intrauterine growth restriction was identified. At 32 weeks new central nervous system findings were detected: hypoechoic frontal cortex images suggestive of bilateral porencephalic cysts (Figure 2c) and first cervical vertebra dysraphism with dura mater bulging (Figure 2d). At 35 weeks intrauterine growth restriction and Doppler evaluation defined cesarean section. A male baby of 1410 g and 44 cm height was born. Apgar score was 8 at 1min and 9 at 5min. Minor respiratory distress was solved with cephalic oxygen chamber. Anthropometric measurements were cephalic perimeter 29 cm (Po5), 44 cm height (P 10 to 25), inner canthal distance 1.6 cm (P 3), interpupillary distance 3 cm (Po3), outer canthal distance 4.6 cm (P 3 to 50), palpebral fissures 1.2 cm (Po3), labial intercommissure 1.8 cm (Po3), total ear length 2.4 cm (Po3), total hand length 6 cm (P 50 to 97) and middle finger length 2.5 cm (P 50 to 97); lower segment length 19.6 cm, upper segment length 24.4 cm and upper/lower segments ratio 1.24 (normal range 1.65 to 1.70); feet length 7 cm (P 50 to 75) and penis length 1.6 cm (Po3). Physical examination showed pseudohydrocephalus, hypotricosis, scalp collateral venous system visible, triangular face (Figure 3a), widened fontanelles, biparietal prominence, low-set ears, upper oblique palpebral fissure, depressed nasal bridge with beaked nose profile (Figure 3b). Labial commissures had a downward orientation; two central natal teeth were visible, micrognathia and thin neck were evident. The cardiac evaluation demonstrated a systolic murmur grade II/IV. External genitalia agreed with male condition except for bilateral criptorquidia. Limbs presented general hypotrophy and with imitated articular movements (Figure 3c). Hands and feet were longer than normal (Figure 3d and e). Reduced subcutaneous fat was evident. Neurological examination reported general hypertonic condition and poor suction. Echocardiogram showed persistent ductus arteriosus 2.4 mm with mild pulmonary hypertension, without cardiac structural anomalies. Transfontanellar scan demonstrated hypoechoic collection associated with bilateral frontal porencephalic cysts and a wider cisterna magna and a dysraphism of the first cervical vertebra with dura mater bulging. Axial computerized tomography reported hypodense lines suggestive of bilateral frontal porencephalic cysts. All these findings permite to conclude that this case correspond to the Wiedemann–Rautenstrauch syndrome (WRS; online mendelian inheritance in man: 264090) or neonatal progeroid syndrome. Neonatal respiratory distress was successfully resolved after 24 h. Indirect hiperbilirrubinemia was treated with phototherapy. The baby was discharged once adecuate suction level was reached 40 days after birth weighing 1925 g. At 3 weeks buttocks upper fat was evident.

Swinglea glutinosa (Blanco) Merr., a perennial plant in the family Rutaceae, is originally from southeast Asia but which is now grown worldwide. In Colombia, it is used as an ornamental and principally as a living fence around rural properties and farms in several regions of the country. Citrus leprosis virus cytoplasmic type (CiLV-C) was recently detected in orange groves of the Colombian Piedmont eastern plains, an area known as the Llanos Orientales (2). Because of the potential for country-wide infection of citrus, some measures are being taken to avoid CiLV-C spread to other regions of Colombia. Further surveys made from June to December 2005 to evaluate the extent of the spread of CiLV-C in the Llanos Orientales revealed some plants in S. glutinosa hedges surrounding citrus orchards exhibiting chlorotic spots and ringspots of varied size on the leaves, similar to those caused by CiLV-C on sweet oranges leaves. These plants were found near citrus orchards in the municipalities of Guamal and in some urban areas of Villavicencio City in the Meta Department. The possibility that these symptoms were caused by CiLV-C was investigated soon after sample collection by the same procedures as described previously for sweet orange (2). In the leaf lesions of S. glutinosa, typical bacilliform particles and dense cytoplasmic viroplasm were found with electron microscopy. Total RNA extracted from symptomatic leaves was subjected to reverse transcription-PCR (RT) using primers (Fwd. 5′GATACGGGACGCATAACA-3′/Rev. 5′-TTCTGGCTCAACATCTGG-3′) that specifically amplify a region within the CiLV-C putative methyltransferase gene and this yielded a single fragment of the expected 402 bp (3). Analysis of the consensus sequence derived from 20 RT-PCR products (GenBank Accession No. EU689106) showed 96% nucleotide and 92% amino acid sequence identity to the sequence of a Brazilian CiLV-C isolate (GenBank Accession Nos. DQ352194.1 and YP_654565.1), respectively. Recently, published work described mite transmission of CiLV-C to some nonrutaceous plants (1), but to our knowledge, this is the first report of a nonCitrus rutaceous plant naturally infected by CiLV-C. Mites found in citrus orchards and previously identified as Brevipalpus phoenicis (Geijskes) (2), which are likely the most important vector of CiLV-C in citrus in Colombia, were observed feeding on healthy and symptomatic S. glutinosa, indicating that S. glutinosa is a host for B. phoenicis. Because the use of S. glutinosa as a living fence or hedge is a common practice in Colombia, CiLV-C-infected S. glutinosa plants may play a role in the epidemiology of leprosis in commercial citrus by serving as an inoculum source for this lethal virus. References: (1) M. Bastianel et al. Summa Phytopathol. 32:211, 2006. (2) G. A. León et al. Plant Dis. 90:682, 2006. (3) E. C. Locali et al. Plant Dis. 87:1317, 2003.

A subtype of neuronal ceroid lipofuscinosis (NCL) is well recognized which has a clinical course consistent with juvenile NCL (JNCL) but the ultrastructural characteristics of infantile NCL (INCL): granular osmiophilic deposits (GROD). Evidence supporting linkage of this phenotype, designated vJNCL/GROD, to the INCL region of chromosome 1p32 was demonstrated (pairwise lod score with D1S211 , Z max = 2.63, straight theta = 0.00). The INCL gene, palmitoyl-protein thioesterase (PPT ; CLN1), was therefore screened for mutations in 11 vJNCL/GROD families. Five mutations in the PPT gene were identified: three missense mutations, Thr75Pro, Asp79Gly, Leu219Gln, and two nonsense mutations, Leu10STOP and Arg151STOP. The missense mutation Thr75Pro accounted for nine of the 22 disease chromosomes analysed and the nonsense mutation Arg151STOP for seven. Nine out of 11 patients were shown to combine a missense mutation on one disease chromosome with a nonsense mutation on the other. Mutations previously identified in INCL were not observed in vJNCL/GROD families. Thioesterase activity in peripheral blood lymphoblast cells was found to be markedly reduced in vJNCL/GROD patients compared with controls. These results demonstrate that this subtype of JNCL is allelic to INCL and further emphasize the correlation which exists between genetic basis and ultrastructural changes in the NCLs.