Tatsuo Kono

Another observation of microphthalmia in an XX male: microphthalmia with linear skin defects syndrome without linear skin lesions

AbstractA case of microphthalmia with Xp microdeletion is reported. The patient was a boy who showed bilateral microphthalmia with corneal opacities, hypospadias without evidence of hypogonadism, and a conduction disturbance of the heart (Wenckebach conduction). No skin lesion was discerned. High-resolution chromosome analysis revealed the karyotype of 46,X,del(X)(p22). The phenotype was considered to be microphthalmia with linear skin defects (MLS) syndrome without skin lesions. Polymerase chain reaction and fluorescence in-situ hybridization analyses revealed that the chromosome aberration resulted from an X;Y translocation: the presence of pseudoautosomal boundary Y and the sex-determining region of Y was confirmed, while Xp deletion involving the region distal to DXS1129 was ascertained. Thus the chromosome designation using the ISCN 1995 nomenclature is 46,X,der(X),t(X;Y)(p22.13;q11.2). Despite the absence of skin lesions, the Xp deletion of our patient corresponded to those of previously reported typical cases of MLS syndrome. Our observation further supports the current hypothesis that the phenotypic variation of MLS syndrome represents tissue-different X inactivation rather than different genetic effects of two contiguous genes.

Negative C‐reactive protein in children with bacterial infection*

Abstract Purpose: To evaluate the practical value of initial C‐reactive protein (CRP) in the diagnosis of bacterial infection in children.

Tigroid pattern of the white matter: a previously unrecognized MR finding in lissencephaly with cerebellar hypoplasia

Brain MR images of a 14-month-old boy with lissencephaly and cerebellar hypoplasia showed numerous radiating linear structures in the white matter. This finding was identical to the tigroid or leopard-skin pattern that is seen in Pelizaeus-Merzbacher disease or metachromatic leukodystrophy and represents the perivascular white matter spared from demyelination. We speculate that mutations of the reelin gene, expressed both in the cortex and in the white matter, may play an important role in its development.

Severe posterior reversible encephalopathy syndrome resolved with craniectomy.

Posterior reversible encephalopathy syndrome (PRES) has been thought to be a benign disease, but recently severe cases have been reported with increasing recognition. A 3‐year‐old girl with congenital nephrotic syndrome had rapidly progressed to coma. Computed tomography (CT) of the head showed striking swelling of the brainstem and transtentorial herniation. Emergency decompressive craniectomy was performed. Consecutively, blood pressure was optimally controlled. The patient gradually recovered to the previous state before onset of PRES. Rapid improvement of clinical symptoms and rapid resolution of abnormal findings on serial CT led to diagnosis of PRES. In severe PRES with unstable vital signs, surgical intervention should be considered as well as appropriate blood pressure management.

Narrow Duplicated Internal Auditory Canal: A Rare Inner Ear Malformation With Sensorineural Hearing Loss

Anarrow duplicated internal auditory canal (IAC) is a very rare congenital inner ear malformation, with only 5 cases (to our knowledge) reported in the literature. 1-5 A 14-year-old girl with unilateral sensorineural hearing loss (SNHL) showed 2 narrow 1 mm) bony canals in the inner ear portion of the left temporal bone on computed tomograms (CTs). The anterior canal continued to the bony canal of the facial nerve, and the posterior canal continued to the cochlea. Other than a lack of development of the canal for the cochlear nerve, the cochlea was normal. High-resolution magnetic resonance images (MRIs) revealed a single thin cranial nerve located in the anterior canal. However, a cranial nerve was not found in the posterior canal. Therefore, a diagnosis of a unilateral narrow duplicated IAC with a hypoplastic vestibulocochlear nerve and vestibular-semicircular canal malformation was made. Computed tomography plays an important role in the evaluation of the bony structure; however, assessment of the neural contents on MRIs is important for the appropriate diagnosis and treatment of patients with a narrow duplicated IAC. We report a case of a unilateral narrow duplicated IAC, with a particular emphasis on the imaging findings of thin-slice high-resolution CTs and MRIs.

Unilateral lung hyperinflation caused by bridging bronchus on chest radiography in an infant

A 5-month-old boy presented to the emergency department with cough and dyspnea. Although his parents had noted that his breathing was occasionally noisy from the neonatal period, he was not examined medically. He had no significant past medical history or allergies. The family history was unremarkable. Written informed consent was obtained from the patient’s parents for the publication of this report. The respiratory rate was 57 breaths/min, and oxygen saturation was 88% in room air. Physical examination indicated wheeze and inspiratory stridor, nasal flaring, and suprasternal retraction. The laboratory data were as follows: white blood cell count, 9,650/lL; C-reactive protein, 0.18 mg/dL; and carbon dioxide partial pressure, 62.2 mmHg on venous blood analysis. Rapid antigen-based testing for respiratory syncytial virus was negative. Inhaled bronchodilators were ineffective. Chest radiography indicated hyperinflation of the right lung with a leftward shift of the mediastinum (Fig. 1a). The patient was admitted to the pediatric intensive care unit and intubated due to the progression of respiratory failure. Chest radiography performed after intubation showed improvement in aeration of the right middle and lower lobes, indicating that the level of the tracheal bifurcation was higher, and that of the right lower pulmonary artery and vein lower, than normal (Fig. 1b). This suggested a bronchial branching malformation, and hence chest contrast-enhanced computed tomography (CT) was performed. The CT showed abnormal bronchi with the right upper lobe bronchus arising from the trachea at the level of the fourth thoracic vertebra and the intermediate bronchus arising from the left main bronchus at the level of the sixth thoracic vertebra. The latter crossed the midline (Fig. 1c). CT also showed the left pulmonary artery arising from the right pulmonary artery and compressing the left bronchus (Fig. 1d). On further investigation, bronchoscopy indicated stenosis of the right upper lobe bronchus. A diagnosis of bridging bronchus with left pulmonary artery sling and stenosis of the right upper lobe bronchus was therefore confirmed. Slide tracheoplasty and surgical repair of the pulmonary artery sling were performed on hospital day 25. The patient was discharged on hospital day 93. Unilateral hyperlucent lung can be divided into five types on etiology: abnormalities of the chest wall (e.g. Poland syndrome); lung parenchyma (e.g. bronchial atresia and Swyer–James syndrome); pulmonary vessels (e.g. pulmonary artery sling); central airways (e.g. foreign body aspiration and endobronchial tumor); and mediastinum (e.g. bronchopulmonary foregut malformation). Of these, bridging bronchus is a rare congenital malformation categorized as a lung parenchymal abnormality, and is defined as an anomalous bronchial branching pattern characterized by a large bronchial branch arising from the left main stem bronchus, bridging the mediastinum from the ipsilateral to contralateral lung, and reaching the right lower and middle lobes. In addition, it is often complicated by tracheal stenosis, bronchomalacia, and cardiovascular anomalies such as pulmonary artery sling. Tracheal stenosis can cause respiratory distress, wheezing, coughing, stridor, or life-threatening airway obstruction. This patient presented with wheeze and inspiratory stridor. He also had a left pulmonary artery sling and tracheal stenosis of the right upper lobe bronchus. We believe that hyperinflation of the right upper lobe seen on chest radiography was caused by the stenosis of the right upper lobe bronchus. The bridging bronchus can be misdiagnosed as bronchiolitis and asthma given that these diseases cause wheezing in young infants. We therefore believe that chest radiography is crucial in identification of the cause of the first episode of wheezing in young infants. If chest radiography is abnormal, contrast-enhanced CT is strongly recommended, because it can help detect bridging bronchus early.

Early diagnosis of scurvy based on radiology and dietary history

A 3-year-old Japanese boy presented with a limp of 1 month’s duration. He was reluctant to extend his knees and could not stand up. There was no fever or history of trauma, and his delivery history was unremarkable. The growth curve showed decreased height and weight standard deviation scores. While motor development was normal, language development was equivalent to that of a 2-year-old. His nutritional state was poor. Physical examination failed to show petechiae, gingival swelling, tenderness or joint swelling of the knee. Laboratory data including hemoglobin, white blood cell and platelet count, C-reactive protein, alkaline phosphatase, serum calcium, and phosphorus were within the normal range. Radiograph of the knee showed distal femoral metaphyseal thickening of the provisional zones of calcification, the socalled white line of Frankel (Fig. 1a). Differential diagnoses including leukemia and tumor metastasis were ruled out on the basis of bone marrow examination and whole body computed tomography (CT). CT of the coronal reformation showed metaphyseal irregularities, diffuse low bone density in the epiphysis, and distal metaphysis (Fig. 1b). T2-weighted, coronal, fat-saturated magnetic resonance imaging (MRI) showed intraosseous signal alterations of the distal femur, tibia, and juxtaosseous soft-tissue edema (Fig. 1d). On radiology the most probable diagnosis was scurvy. The patient ate only curried or seasoned rice, and had not consumed fresh fruits or vegetables for more than 1 year. This history confirmed the diagnosis of scurvy. Serum vitamin C was extremely low at 0.8 lg/mL (normal range, 5.5–16.8 lg/ mL). Treatment with oral ascorbic acid improved the symptoms dramatically. Seven days after treatment, the patient was able to stand, and 10 days after treatment he was able to walk without assistance. The dramatic improvement in the limp after supplementation with ascorbic acid, and the radiological findings, together with the initial low serum vitamin C, confirmed the diagnosis of scurvy. Vitamin C plays an essential role in bone formation, acting as a cofactor in forming and stabilizing the collagen triple helix, which is indispensable for the production of the bone cortex. Therefore, vitamin C deficiency can lead to symptoms such as bone pain, limping, and various radiological findings. Two points need to be emphasized for the early diagnosis of scurvy: the first is the recognition not only of the overt signs of scurvy but also of the minor radiological changes; and the second is the taking of a detailed dietary history. Recognition of minor radiological changes is crucial for early diagnosis. In the present case, only the white line of Frankel was found. Although many radiological findings of scurvy have been reported, in the present case the Wimberger ring sign, pelkan spurs, pencil thin cortex, and subperiosteal hemorrhaging were not obvious. CT provided further useful information, including metaphyseal irregularities, diffuse low bone density of the epiphysis, and distal femoral metaphysis, suggesting inadequate cartilaginous calcification of the metaphysis and epiphysis. Alteration of intraosseous signal intensity on MRI represents edema and hemorrhaging in the marrow. There are several reports of radiological findings in scurvy, but the diagnosis was delayed in most cases because the early subtle radiologic findings were overlooked, and the possibility of scurvy was not recognized until more conspicuous radiological findings had been noted. Accurate dietary history taking is instrumental to the early diagnosis of scurvy. Although scurvy was once thought to have been all but eradicated in developed countries, it is now causing alarm by its re-emergence. In developed countries, most pediatricians, family physicians, orthopedists, and neurologists may be unfamiliar with the disease, but it still occurs, especially in children with restricted dietary habits, autism spectrum disorder, or tube feeding. Prolonged poor nutrition was suspected as the cause of scurvy in the present patient. Scurvy demands careful attention because it can produce many symptoms including irritability, petechiae, dermatological problems, gingival swelling, bone pain, and arthralgia. If the disease progresses to the advanced stage, it may lead to psychological problems and even death. We were able correctly to diagnose the disease in the present case while it was still in its early stage, based on the aforementioned clues. In conclusion, scurvy was diagnosed at an early stage in a boy with a limp based on radiology and a history of poor eating habits. The patient was successfully treated with ascorbic acid supplementation. The possibility of scurvy should be Correspondence: Kazuhiro Uda, MD, Department of General Pediatrics, Tokyo Metropolitan Children’s Medical Center, 2-8-29 Musashidai, Fuchu, Tokyo 183-8561 Japan. Email: uddy0308@yahoo.co.jp Received 19 February 2016; revised 8 August 2016; accepted 28 September 2016. doi: 10.1111/ped.13183