[Hereditary sensory and autonomic neuropathy type IV: a report on two cases]. / La neuropathie héréditaire sensitive et autonome de type IV : à propos de 2 observations.

Hereditary sensory and autonomic neuropathy type IV (HSAN IV) is a very rare autosomal recessive disorder characterized by recurrent episodes of unexplained fever, extensive anhidrosis, total insensitivity to pain, hypotonia, and mental retardation. The absence of urticarial reaction to intradermal injection of histamine is a sign of great diagnostic value, but this is common to all types of HSAN. The most frequent complications of this disease are corneal scarring, multiple fractures, joint deformities, osteomyelitis, and disabling self-mutilations. Malignant hyperthermia and sepsis are major causes of mortality. We relate the first observations of two Tunisian children with genetically confirmed HSAN IV. Our goal is to review the clinical aspects of this mysterious neuropathy and to emphasize the peculiarities of its management. These two patients are brothers from 1st-degree consanguineous parents (cousins) with no particular medical history. The 1st patient, the family's 1st child, presented in the 1st h of life with hypotonia and persistent fever, which was refractory to antipyretics. At the age of 8 months, the patient presented recurrent febrile seizures and developed significant self-mutilations of the fingers and tongue. He died 3 months later in a context of multivisceral failure from sepsis and malignant hyperthermia. The 2nd patient, currently aged 4 years, was born after a normal sister. He consulted in the neonatal period for a high fever. The diagnosis of HSAN IV was rapidly suspected and genetically confirmed. In fact, this patient is homozygous for the NTRK1 gene, whereas his sister and both parents are heterozygous. Special predispositions have been taken to improve the course of the disease such as air conditioning to control hyperthermia, a dental tray to reduce the injuries resulting from self-mutilation, regular moistening of the eyes to avoid corneal drying, and chlorpromazine to control hyperactivity and reduce injuries. The good progression with all these predispositions and others underlines the importance of appropriate multidisciplinary management and close monitoring of patients suffering from HSAN IV, especially during the first 3 years of life. Indeed, mortality, behavioral disorders, and mental retardation significantly decrease after this age. New curative treatments are expected in the next decade.

[Visceral leishmaniasis in children. A study of hospitalized cases from 1974 to 1988 at the Children's Hospital in Tunis]. / Leishmaniose viscerale de l'enfant. Etude des cas hospitalisés de 1974 à 1988 à l'Hôpital d'Enfants de Tunis.

The authors reported 122 cases of kala-azar admitted at Tunisian Children's hospital between 1974 and 1988. This affection was concerned male child and 78% of cases were aged less than 3 years old. The clinical feature was pallor, fever and splenomegaly. The diagnosis of kala-azar was established by serological test. The death rate was 8%.

[Severe forms of liver involvement in visceral leishmaniasis. Apropos of 7 cases]. / Les formes sévères d'atteinte hépatique au cours de la leishmaniose viscérale. A propos de 7 cas.

In a series of 180 cases of Kala-azar, hepatic involvement was found in 16 patients. The authors report 7 cases of severe hepatitis with cytolysis, cholestasis and liver failure. These patients presented with high triglyceride, low cholesterol and low alpha-lipoprotein blood levels. The authors suggest that an activation of the mononuclear phagocyte system might explain these abnormalities.

[Thrombosis of the right ventricle in 2 infants with myocardiopathy]. / Thrombose du ventricule gauche au cours d'une myocardiopathie chez deux nourrissons.

We report two cases of left ventricular thrombosis in infants with myocardiopathy. Patients were aged ten and twelve months respectively. Two-dimensional echocardiography, performed because of the development of heart failure, evidenced an echogenic image within the left ventricle and significant dilatation of the left ventricular chamber. One patient developed a peripheral arterial thrombosis that resolved under anticoagulant therapy. The intracardiac thrombus disappeared under anticoagulant therapy after one month in one patient and six months in the other. Pathophysiology of the left ventricular thrombosis is discussed; the dilatation of the left ventricle apparently played a significant role. We emphasize the value of early initiation of preventive anticoagulant therapy in patients with myocardiopathy.