Cardio-facio-cutaneous syndrome (CFCS), a rare congenital disorder of RASopathies, displays high phenotypic variability. Complications during pregnancy and in the perinatal period are commonly reported. Polyhydramnios is observed in over half of pregnancies and might occur with fetal macrocephaly, macrosomia, and/or heart defects. Premature birth is not uncommon and any complications like respiratory insufficiency, edema, and feeding difficulties are present and might delay accurate clinical diagnosis. Besides neonatal complications, CFCS newborns and later infants have distinctive dysmorphic features usually accompanied by neurological (hypotonia with motor delay, neurocognitive delay) findings. Also, heart defects usually present at birth. Herein, we present the case of a female baby born prematurely from a pregnancy complicated with polyhydramnios, presenting at birth with craniofacial features typical for RASopathies, heart defects, neurological abnormalities, and hyperkeratosis unusual for a neonatal period. Due to the presence of a heart defect and other complications related to premature birth, the course of the disease was severe with a fatal outcome at the age of 9 months. The RASopathy, particularly CFCS, clinical diagnosis was confirmed and de novo p.Phe57Ile mutation in MAP2K2 was identified.

Introduction. Noonan syndrome (NS) is a genetically determined disease, inherited from autosomal dominant. About 50% of patients have a mutation in the PTPN11 gene, and mutations in the other genes are much less frequent, up to 10-15% for SOS1, RAF1, and RIT1, as well as up to 1-2% for others. Aim. To present the clinical picture of a child with NS with a non-frequent mutation in the RAF1 gene and to describe a proposal of good practice based on the multi-specialty child care procedures used from birth to 3 years of age. Case Report. The paper presents a boy with NS and his psychomotor and linguistic development during the 36 months of his life. The infant was born by cesarean section in average general condition and with features of macrosomia. Castillo-Morales rehabilitation techniques were used to improve the coordination of suction, swallowing and breathing. Bobath Neurodevelopmental Treatment was also used on the hospital ward. The NS child's development was assessed using the Munich Functional Developmental Diagnostics (MFDD). At the age of 36 months, the boy presents psychomotor development appropriate for the age of a healthy child. He remains under multidisciplinary team care and is intensively rehabilitated accordingly to both movement and linguistic functions. Discussion. Management of NS should be comprehensive and multidisciplinary, and continuous monitoring of patients is crucial. Although a number of patients experience learning difficulties and a mild form of mental impairment, the diagnosis of NS does not predispose to mental disorders. Conclusions. NS is a multi-symptomatic disease that manifests itself in the expression of clinical symptoms requiring the interdisciplinary cooperation of many specialists. The fact is that the identified mutation in the RAF1 gene in patients with NS does not mean they are predestined to develop psychomotor disorders.

Introduction. Moyamoya is a rare disease of unknown etiology which leads to strokes resultant from occlusions of intracranial arteries. As a result of the blockage of the arteries in the brain a lateral network of blood vessels develops, forming a characteristic angiographic image. Case Report. In the paper a case is presented of a child who in the course of a month has suffered two strokes in two cerebral hemispheres. The damage in the central nervous system led to paresis in four limbs, speech impairment (later: lack of speech), problems with swallowing, and limited visual and audial contact. Discussion. The main aim of the therapy was to improve feeding, drinking, and chewing and an attempt to introduce alternative communication. Elements of sensory integration were employed, and regulatory therapy of Castillo Morales was used to allow swallowing, shutting the mouth fully, and controlling the mandible while eating and drinking. Furthermore, the child's agility was being simultaneously enhanced the motor skills rehabilitation, the child would also benefit from a Room of World Experiences. Contrary to the initial assumptions, it has not been possible to reach all the aims of the therapy. Epileptic seizures have led to the loss of the acquired skills. Conclusions. Successfulness of therapy is dependent on a number of factors, which are often independent of the therapist. What is crucial is to adjust the level of the difficulty of the sessions and their duration to the child's state of feeling on a particular day. After the conclusion of the programme improved eyesight was noticed. However, in the case of a child with such vast damage to the central nervous system the aim of the therapy is to retain the acquired skills and to carry out further attempts to develop new skills through their frequent repetition.

Introduction. The Beckwith-Wiedemann syndrome (BWS) is a rare disorder characterized by a wide spectrum of symptoms i.a. umbilical hernia or omphalocele, macroglossia and above-average pre/postnatal growth (macrosomia). Aim. To present a case report of a child with BWS who underwent an early logopedic intervention and rehabilitation procedures including Bobath neuro-developmental treatment (NDT) and orofacial stimulation based on the Castillo-Morales concept (CMC). Case Report. The paper presents a case of a girl with BWS and the course of her psychomotor development during the 24 months of her life. The child has numerous defects typical for this syndrome, i.e. facial dysmorphism, macrosomia, and significant hypertrophy of the tongue as well as embryonal carcinomas such as hepatoblastoma and neuroblastoma. Psychomotor development was assessed at the age of 12 months using the Munich Functional Developmental Diagnostics (MFDD). At the age of 2, development of fine and gross motor skills and independence level do not differ significantly from the norm. The biggest problem concerns verbalization of needs due to the enlarged tongue. The girl still remains under multidisciplinary team care and is intensively rehabilitated. Discussion. There is no doubt that the care of children with BWS requires an interdisciplinary team of specialists. The child needs not only proper physical development, but also correct interpersonal relationships built on verbal communication. Therapy should be started as early as possible before bad habits develop. Conclusions. The knowledge of clinical features characteristic for the syndrome allows for rapid diagnosis and providing interdisciplinary care since the moment of birth. Children with BWS develop in individual ways depending on the type of genetic cause and additional defects. The care of BWS children must involve permanent and interdisciplinary co-operation with many specialists. (JNNN 2019;8(1):23-29) StreszczenieWstęp. Zespół Beckwitha-Wiedemanna (BWS) jest rzadkim zaburzeniem charakteryzującym się szerokim spektrum objawów, tj. przepukliną pępowinową, makroglosją i ponadprzeciętną masą ciała przed/po urodzeniu (makrosomia). Cel. Przedstawienie opis przypadku dziecka z BWS, u którego zastosowano wczesną interwencję logopedyczną oraz procedury rehabilitacji, w tym postępowanie według metody Bobath (NDT) i stymulację orofacjalną w oparciu o koncepcję Castillo-Moralesa (CMC). Opis przypadku. W pracy przedstawiono przypadek dziewczynki z BWS oraz przebieg jej rozwoju psychoruchowego w ciągu 24 miesięcy jej życia. Dziecko ma wiele wad charakterystycznych dla omawianego zespołu, tj. dysmorfizm twarzy, makrosomię i znaczną hipertrofię języka, jak również nowotwory zarodkowe, takie jak hepatoblastomę i neuroblastomę.

Speech development of children with a Down syndrome is partly stunted or disturbed in comparison to healthy children's speech, although, it is subjected to the same rules. The right speech development process of children with a Down syndrome (according to a child possibilities) can be provided by a well prepared program focused on stimulation of development and progress of speech in a complex curative and rehabilitative process. The exercises need to lead to the activation of a person and they should help to integrate with a society and, thanks to that, create conditions to the correct personality development. The aim of the study is to identify the causes that interfere with normal speech development of a child with Down syndrome including defects and anomalies in the anatomy and the dysfunction of the central and peripheral nervous system, and to present guidelines for a speech therapist working with a child with trisomy 21 in the first months of life.