Special Time in a crèche

The paper describes Special Time carried out in a crèche with a boy with developmental delay and autistic features. Special Time is a form of therapeutic intervention that consists of weekly sessions during which a child is given individual attention by a teacher, an educator or a specific professional. A key aspect of the methodology is that there is a Work Discussion seminar where the professional can be helped to develop the specific stance required by the work and give meaning to the child’s communication. In this case, the Work Discussion seminar was tailor-made and included the Special Time professional and the head of the crèche who presented her work with the child's parents and with the educators, which took place in parallel with the Special Time sessions. The developments achieved by the child in the area of language, his capacity to relate to people, the symbolic use of toys and play, and the reduction of autistic states of mind and behaviour is illustrated through excerpts from the sessions.     

Cross-sectional survey of trachoma in school age children in the region of Thiès (Senegal)

BACKGROUND: Trachoma is a leading cause of blindness in West Africa. In Senegal previous studies have shown that the endemicity is high. AIMS: To verify the extent of the pathology and to study the epidemiologic characters of this infectious disease in a population of school age children in a rural zone, located in the Thiès region (Senegal). METHODS: A cross-sectional survey in six villages in the region of Thiès was performed in a population of school age children (5 to 15 years old). Sixty variables (individual, family, village, etc.) with morbidity indicators for trachoma cases were collected and analyzed. RESULTS: The cross-sectional survey confirmed the extent of the prevalence of trachoma in the childhood population; 208 of the 388 children (mean age, 9.19 years) included had trachoma (53.6%). Significant statistical correlations were found among the occurrence of trachoma and ethnic origins, the village of residence, the father's profession and the daily quantity of water ingested and its origin. Inversely no correlation could be found between the occurrence of trachoma and sex, age (except for florid trachoma), the size of the sibship, whether the mother washes the child, washing their hands before eating, the number of cospouses and the number of children per mother. CONCLUSIONS: The data obtained confirmed the extent of this endemic disease in the region of Thiès, because dispensing antibiotic eye drop has limited efficacy over time. Information should be provided to the population on the extent of the disease and its epidemiologic characteristics and more widespread well drilling, and use of that water should be encouraged.     

Papillon-Lefèvre syndrome: report of three cases in the same family

Papillon-Lefèvre syndrome is a rare autosomal recessive disorder caused by cathepsin C gene mutation leading to the deficiency of cathepsin C enzymatic activity. The disease is characterized by palmoplantar hyperkeratosis, periodontopathy and precocious loss of dentition, and increased susceptibility to infections. Pyogenic liver abscess is an increasingly recognized complication. Three cases of Papillon-Lefevre syndrome in the same family are presented here. Two of the three siblings presented with characteristic manifestations of the syndrome. The third case had died previously due to liver abscess prior to a diagnosis of Papillon-Lefèvre syndrome.     

Corneal involvement in Papillon-Lefèvre syndrome

We describe a 7-year-old boy with classic dental and dermatologic findings of Papillon-Lefère syndrome. In addition to these manifestations, he had bilateral, almost symmetric, hypertrophic-looking corneal leukoma. This case demonstrates that patients with Papillon-Lefèvre syndrome should undergo ophthalmologic examination in addition to frequent dental examination.     

The neuropathology of Aicardi-Goutières syndrome

Aicardi-Goutières syndrome is an autosomal recessive neurodegenerative disorder with unique characteristics which include cerebrospinal fluid lymphocytosis, cytokine involvement (interferon-alpha in plasma and in cerebrospinal fluid), a unique distribution of cerebral calcifications, and early loss of myelin. Surprisingly only a very small number of detailed neuropathological studies are available. This paper summarizes the findings. Calcifications are both present as concretions and as perivascular cuffs of calcium surrounding small vessels. Small vessel involvement (microangiopathy) is apparent from a typical distribution of microinfarctions in at least one case studied. Together with signs of extracerebral vascular involvement known from earlier reports this finding points to microangiopathy as an important pathogenic mechanism in Aicardi-Goutières syndrome.     

Epilepsy in Aicardi–Goutières syndrome

BackgroundAicardi–Goutières syndrome (AGS) is a genetically determined early-onset encephalopathy with variable phenotype, including neurologic manifestations such as dystonia, spasticity, epileptic seizures, progressive microcephaly, and severe developmental delay. The aim of our study was the characterization of epilepsy, one of the most frequent and severe AGS manifestations, in molecularly confirmed patients.MethodsWe reviewed the medical records, EEG, and CT/MRI findings in 16 patients aged 1–22 years that carried AGS1-5 mutations.ResultsEpilepsy manifested in 12 (75%) patients and took a refractory course in 9 (56%). 4 (25%) patients presented with seizures in the first four weeks and 11 (69%) altogether in the first year of life. Spasms were reported in 3 (19%) patients, focal seizures in 4 (25%), myoclonic in 5 (31%), symmetric or asymmetric tonic in 11 (69%), generalized tonic–clonic in 3 (19%) and status epilepticus in 4 (25%). EEG recordings initially showed a slow and disorganized background, followed by a regional intermittent theta/delta slow, while obvious multifocal or generalized epileptic discharges were only observed at follow-up. None of these EEG features were specific of AGS. There was no discernible correlation between the genotype and epilepsy onset, seizure types and epilepsy evolution. Epilepsy severity did not correspond to neuroimaging pathology.DiscussionEpilepsy constitutes a cardinal feature of AGS, characterized by early onset, predominantly tonic semiology and a refractory course. The early discrimination of epileptic seizures from paroxysmal dystonia poses a challenge for neuropaediatricians, considering the initially inconspicuous or non-specific EEG findings. This study underlines the necessity of a more systematic serial evaluation of AGS patients using long-term video-EEG recordings.     

Renal abscess in Papillion–Lefèvre syndrome

A 5-year-old female with Papillon–Lefèvre syndrome presented with renal mass. A radiological diagnosis of malignancy was made; however, partial nephrectomy revealed granulomatous disease indicative of chronic infection. Although liver abscess is an emerging complication in patient with Papillon–Lefèvre syndrome, this case represents the first renal abscess described in such patients.     

Sounds and Charrière: The rest of the story

Parisian cutler Joseph-Frédéric-Benoît Charrière (1803–1876) contributed greatly to surgical disciplines with innovative tools, but his legacy is the gauge system he developed in 1842 that is still used for catheters, probes, and dilators. Sounding devices have been documented in the surgical armamentarium since 3000 BC, with practitioners such as Hippocrates, Galen, Celsus, and Al-Zahrawi espousing theories on sounding and the related topics of stones and urinary obstruction. The medical revolution in 19th-century Paris propelled technology and one of the most influential men involved was Charrière, who pioneered diverse technical processes in the manufacturing of surgical instruments, led one of the largest instrument manufacturing companies, and improved on tools introduced by predecessors including his mentor Guillaume Dupuytren. Most importantly he created the catheter scale that, despite not being favored in its country of origin, became an international standard and is known today as the French system. The classification of sounds, catheters, and bougies has undergone many variations throughout the years, but the French scale still holds in current medical practice as an accurate and nearly universal sizing tool.     

Aicardi-Goutières-Syndrom

Aicardi-Goutières syndrome (AGS) is a rare severe progressive encephalopathy which starts in early infancy. Hallmarks include calcifications of the basal ganglia, chronic lymphopleocytosis and abnormal interferon-α elevations in cerebrospinal fluid (CSF). The disorder mimicks intrauterine infections, but is a genetic disorder, mostly inherited by an autosomal recessive trait with a variable genetic and clinical spectrum. In clinical and laboratory presentation, there is an overlap to infantile systemic lupus erythematosus. Four different genes have been identified to date, others are assumed. They code for nucleases, which are involved in cellular repair mechanisms by cleaving RNA-DNA particles. Mutations cause, via enzyme inactivation, a chronic overstimulation of the innate immune system, leading to increased CSF interferon-α production. Prenatal diagnosis is available for known mutations.