[Inguinal hernia in children: easily incarcerated]. / Liesbreuk bij kinderen: snel beklemd.

Inguinal hernia in children is caused by an incomplete obliteration of the vaginal process during the embryological development. The vaginal process can thus become a hernia sac that often contains bowel and in girls, an ovary. The diagnosis of inguinal hernia is made by history and physical examination. According to current guidelines surgical repair should be performed without delay to avoid incarceration, which gives a high risk of complications, including testicular atrophy and ischemia of vital organs. However, patients are regularly not referred adequately. We present three cases of children who developed complications of a non-repaired inguinal hernia. Additionally, the data of all children with a congenital inguinal hernia, surgically treated from January 2018 until August 2019 show that out of 243 children 13.6% presented acutely with an incarcerated inguinal hernia. Another 6% received a wrong advice from their primary care doctor and was not referred to a (pediatric) surgeon.

The shrunken, bright cerebellum: a characteristic MRI finding in congenital disorders of glycosylation type 1a.

SUMMARY: CDG-1a is an early-onset neurodegenerative disease with selective hindbrain involvement and highly variable clinical presentation. We retrospectively reviewed the clinical records and MR imaging studies of 5 children (3 boys and 2 girls aged 12 days to 2 years at presentation) with molecularly confirmed CDG-1a. The cerebellum was hypoplastic at presentation in 4 cases, progressive bulk loss involved the cerebellum and the pons in all cases, and the cerebellar cortex and subcortical white matter were hyperintense on T2-weighted and FLAIR images in all. We conclude that CDG-1a likely results from a combination of cerebellar hypoplasia and atrophy. Cerebellar volume loss with diffuse T2/FLAIR hyperintensity seems to be a peculiar association in the field of cerebellar atrophies, and may be useful to address the differential diagnosis.

Congenital idiopathic atrophoderma of Pasini and Pierini.

Idiopathic atrophoderma of Pasini and Pierini is a disorder of dermal atrophy. There is a female predominance and almost never does the condition present at birth. Histopathological examination reveals attenuated dermis. We report a case of a healthy male born with a plaque of idiopathic atrophoderma of Pasini and Pierini.

New molecular findings in congenital myopathies due to selenoprotein N gene mutations.

Selenoprotein N-related myopathy (SEPN1-RM) is an early-onset muscle disorder that can manifest clinically as congenital muscular dystrophy with spinal rigidity and can result in specific pathological entities such as multiminicore disease, desmin-related myopathy with Mallory body-like inclusions, and congenital fiber-type disproportion. Here we describe the clinical, histopathological, muscle magnetic resonance imaging (MRI) and genetic findings of three Italian SEPN1-RM families. Proband 1 is a 31-year-old female who was floppy at birth and developed axial and mild lower limb-girdle weakness. The second proband is a 13-year-old boy with RSMD1. Probands 3 and 4 were brothers showing clinical phenotype of congenital myopathy. Muscle MRI demonstrated selective involvement of sartorius, gluteal muscles and distal gastrocnemius and sparing of rectus femoris and gracilis. Muscle histopathology showed in proband 1 myopathic changes with mild connective tissue increase and some fibres lacking the Z-line, while probands 2 and 3 had multiminicores. SEPN1 gene analysis revealed five mutations, three of which are novel. Proband 1 was a compound heterozygote for a 92-bp (exon 1) and a 1-bp deletion (exon 9); proband 2 had a 99-bp deletion and a 10-bp duplication in exon 1, and proband 3 presented a novel homozygous mutation in intron 10 acceptor splice site.

Reduced thymic size but no evidence of impaired thymic function in uninfected children born to human immunodeficiency virus-infected mothers.

BACKGROUND: HIV-exposed, uninfected (HIV-EU) infants present hematologic and immunologic abnormalities at birth, and it remains to be clarified whether these abnormalities persist beyond infancy, for instance, affecting vaccination responses. METHODS: Thymic size and thymic output were evaluated in 20 HIV-EU children at 15 months of age and compared with 10 age- and gender-matched controls. Regulatory T-cells (Tregs) and immune activation as well as cytokine profiles were determined, and the antibody response to Haemophilus influenzae Type b (Hib) vaccination was evaluated. RESULTS: Thymic size was significantly lower in HIV-EU children (P = 0.011). However, CD4 and CD8 counts did not differ between HIV-EU and control children. Likewise, thymic output estimated as CD4 cells expressing naive (CD45RA+CD62L+CD27+, P = 0.31) or recent thymic naive (CD45RA+CD27+CD31+, P = 0.13) phenotype, or CD4 cells containing T-cell receptor excision circles (P = 0.47) were comparable. HIV-EU children and controls had similar levels of activated cells (CD4+CD38+HLA-DR+, P = 0.87; CD8+CD38+HLA-DR+, P = 0.22), Tregs (CD4+CD25+CD127(low)FOXP3+, P = 0.53), and naive Tregs (CD4+CD25+CD127(low)FOXP3+CD45RA+CD27+, P = 0.65). Finally, comparable titers of Haemophilus influenzae Type b antibodies in the 2 groups were found (P = 0.43). CONCLUSION: The study demonstrates reduced thymic size in HIV-EU children compared with children born to HIV-negative mothers, but no evidence of impaired thymic function, immune regulation, or antibody vaccination response was detected, suggesting that no qualitative immune deficits persist in HIV-EU children at 15 months of age.

Voxel-based morphometry reveals reduced grey matter volume in the temporal cortex of developmental prosopagnosics.

Individuals with developmental prosopagnosia exhibit severe and lasting difficulties in recognizing faces despite the absence of apparent brain abnormalities. We used voxel-based morphometry to investigate whether developmental prosopagnosics show subtle neuroanatomical differences from controls. An analysis based on segmentation of T1-weighted images from 17 developmental prosopagnosics and 18 matched controls revealed that they had reduced grey matter volume in the right anterior inferior temporal lobe and in the superior temporal sulcus/middle temporal gyrus bilaterally. In addition, a voxel-based morphometry analysis based on the segmentation of magnetization transfer parameter maps showed that developmental prosopagnosics also had reduced grey matter volume in the right middle fusiform gyrus and the inferior temporal gyrus. Multiple regression analyses relating three distinct behavioural component scores, derived from a principal component analysis, to grey matter volume revealed an association between a component related to facial identity and grey matter volume in the left superior temporal sulcus/middle temporal gyrus plus the right middle fusiform gyrus/inferior temporal gyrus. Grey matter volume in the lateral occipital cortex was associated with component scores related to object recognition tasks. Our results demonstrate that developmental prosopagnosics have reduced grey matter volume in several regions known to respond selectively to faces and provide new evidence that integrity of these areas relates to face recognition ability.

Congenital atrophoderma of Pasini and Pierini.

Idiopathic atrophoderma of Pasini and Pierini is a form of dermal atrophy of unknown etiology, usually affecting women during their adolescence and young adulthood. A 2-yr-old girl was presented with erythematous atrophic lesion on the right shoulder, which appeared from birth. The histologic findings were consistent with atrophoderma. This patient, to the best of our knowledge, is the first case of atrophoderma with an onset since birth.

Congenital Atrophoderma of Pasini and Pierini

Idiopathic atrophoderma of Pasini and Pierini is a form of dermal atrophy of unknown etiology, usually affecting women during their adolescence and young adulthood. A 2-yr-old girl was presented with erythematous atrophic lesion on the right shoulder, which appeared from birth. The histologic findings were consistent with atrophoderma. This patient, to the best of our knowledge, is the first case of atrophoderma with an onset since birth.

Unilateral congenital linear atrophoderma of the leg.

We report an infant with depressed, hypopigmented, linear plaques of congenital onset on the lower extremity. The lesions were asymptomatic and the child was otherwise healthy. Despite the clinically obvious change in skin texture and color, histopathologic changes were subtle: a biopsy specimen showed hypopigmentation and a decrease in elastic fibers in the papillary and upper reticular dermis. Diagnoses considered included various congenital syndromes, idiopathic atrophoderma of Pasini and Pierini, and especially, linear atrophoderma of Moulin. However, because of the significant clinical and histopathologic differences when compared to the aforementioned entities, our patient appears to have a unique presentation of congenital linear atrophoderma.

The natural history of Aicardi-Goutières syndrome: follow-up of 11 Italian patients.

Described are the outcomes of 11 Italian patients with Aicardi-Goutières syndrome. Neurologic symptoms progressed in the first year of life and stabilized by the end of the second year in 10 patients. White matter abnormalities remained stable; cerebral atrophy was stable in four patients and progressive in two. Calcifications increased (in number and size) in two of six patients. Serial CSF and serum interferon-alpha measurements (three patients) showed reduced CSF interferon-alpha levels.

Acetylated sialic acid residues and blood group antigens localise within the epithelium in microvillous atrophy indicating internal accumulation of the glycocalyx.

BACKGROUND: Microvillous atrophy, a disorder of intractable diarrhoea in infancy, is characterised by the intestinal epithelial cell abnormalities of abnormal accumulation of periodic acid-Schiff (PAS) positive secretory granules within the apical cytoplasm and the presence of microvillous inclusions. The identity of the PAS positive material is not known, and the aim of this paper was to further investigate its composition. METHODS: Formaldehyde fixed sections were stained with alcian blue/PAS to identify the acidic or neutral nature of the material, phenylhydrazine blocking was employed to stain specifically for sialic acid, and saponification determined the presence of sialic acid acetylation. The specificity of sialic acid staining was tested by digestion with mild sulphuric acid. Expression of blood group related antigens was tested immunochemically. RESULTS: Alcian blue/PAS staining identified a closely apposed layer of acidic material on the otherwise neutral (PAS positive) brush border in controls. In microvillous atrophy, a triple layer was seen with an outer acidic layer, an unstained brush border region, and accumulation within the epithelium of a neutral glycosubstance that contained acetylated sialic acid. Blood group antigens were detected on the brush border, in mucus, and within goblet cells in controls. In microvillous atrophy they were additionally expressed within the apical cytoplasm of epithelial cells mirroring the PAS abnormality. Immuno electron microscopy localised expression to secretory granules. CONCLUSIONS: A neutral, blood group antigen positive, glycosubstance that contains acetylated sialic acid accumulates in the epithelium in microvillous atrophy. Previous studies have demonstrated that the direct and indirect constitutive pathways are intact in this disorder and it is speculated that the abnormal staining pattern reflects accumulation of glycocalyx related material.

Congenital destructive hemispheric lesions and epilepsy: clinical features and relevance of associated hippocampal atrophy.

We studied the clinical, EEG and MRI findings in 19 patients with epilepsy secondary to congenital destructive hemispheric insults. Patients were divided in two groups: 10 with cystic lesions (group 1), and 9 with atrophic lesions (group 2). Seizure and EEG features, as well as developmental sequelae were similar between the two groups, except for the finding that patients of group 2 more commonly presented seizures with more than one semiological type. MRI showed hyperintense T2 signal extending beyond the lesion in almost all patients of both groups, and it was more diffuse in group 2. Associated hippocampal atrophy (HA) was observed in 70% of group 1 patients and 77.7% of group 2, and it was not correlated with duration of epilepsy or seizure frequency. There was a good concordance between HA and electroclinical localization. The high prevalence of associated HA in both groups suggests a common pathogenesis with the more obvious lesion. Our findings indicate that in some of these patients with extensive destructive lesions, there may be a more circumscribed epileptogenic area, particularly in those with cystic lesions and HA, leading to a potential rationale for effective surgical treatment.

The cortical somatotopic map and phantom phenomena in subjects with congenital limb atrophy and traumatic amputees with phantom limb pain.

The extent of the cortical somatotopic map and its relationship to phantom phenomena was tested in five subjects with congenital absence of an upper limb, four traumatic amputees with phantom limb pain and five healthy controls. Cortical maps of the first and fifth digit of the intact hand, the lower lip and the first toe (bilaterally) were obtained using neuroelectric source imaging. The subjects with congenital upper limb atrophy showed symmetric positions of the left and right side of the lower lip and the first toe, whereas the traumatic amputees with pain showed a significant shift (about 2.4 cm) of the cortical representation of the lower lip towards the hand region contralateral to the amputation side but no shift for the toe representation. In healthy controls, no significant hemispheric differences between the cortical representation of the digits, lower lip or first toe were found. Phantom phenomena were absent in the congenital but extensive in the traumatic amputees. These data confirm the assumption that congenital absence of a limb does not lead to cortical reorganization or phantom limbs whereas traumatic amputations that are accompanied by phantom limb pain show shifts of the cortical areas adjacent to the amputation zone towards the representation of the deafferented body part.

Congenital atrophic plaque.

The patient is a 13-year-old female who had had a patchy lesion on her back since birth which increased in size proportional to her age. When she visited our hospital at the age of 13, the lesion was a 30 x 43 mm, slightly depressed, well defined, irregularly shaped, atrophic plaque. Differential clinical diagnoses at that time included macular atrophy, congenital melanocytic nevus, and mastocytosis. Histopathologically, the lesion was characterized by patchy and scattered infiltrates of oval to spindle cells throughout the dermis extending into the subcutaneous fat tissue. Nerve fibers were found in each of the infiltrates. The tumor cells had oval nuclei with relatively abundant cytoplasm and were similar to nevus cells. They were negative for markers such as S-100 protein, neuron specific enolase, epithelial membrane antigen, HMB-45, Leu 7, Desmin, and alpha smooth muscle actin. However, the histopathological findings suggest that the lesion is a melanocytic or neurogenic tumor, possibly a congenital melanocytic nevus or a cellular neurothekoma, though a definite diagnosis could not be made.

Prenatal brain atrophy due to a giant vein of Galen malformation.

We report a full-term newborn girl with a giant vein of Galen malformation and extreme cerebral atrophy of prenatal origin. She presented on the 3rd day of life with intractable congestive heart failure. The diagnosis of the vascular malformation was confirmed by ultrasound and magnetic resonance imaging.

Congenital syndromes connected with tongue malformations.

Malformations of the tongue, are structural defects, present at birth and happening during embryogenesis. Developmental anomalies or defects may be major or minor, single or multiple, depending on their size, site and effect. The aim of this study was to present and to describe congenital syndromes which are associated with tongue malformations and to classify these malformations in groups, according to the tongue's clinical manifestations. The most common malformations of the tongue combined with syndromes associated with them, are fully discussed in this review article. Malformations of the tongue which are discussed in this review article, have been classified in the following categories: 1. Aglossia 2. Microglossia 3. Tongue hemiatrophy 4. Tongue hemihypertrophy 5. Macroglossia 6. Long tongue 7. Ankyloglossia 8. Cleft or bifid tongue 9. Syndromes that affect tongue and cannot be classified in a special condition Each category is discussed separately in this article.