Microcephalic osteodysplastic primordial dwarfism (MOPD) type I with severe anemia and MRI brain findings of MOPD type II

We report a 4 month old male, 4th in order of birth of healthy consanguineous Egyptian parents with typical characteristics of microcephalic osteodysplastic primordial dwarfism most probably belongs to type I (MOPD I). The patient had intrauterine growth retardation, sparse scalp hair, sparse eyebrows and eyelashes, high arched palate, micrognathia, low set ears, short neck, clenched fists, groove between thumb and palm of hand, arachnodactyly, flexion contractures of elbow and knee. He also had thin dry skin with marked decreased subcutaneous fat and prominent superficial veins over chest and abdomen and mild hypertrichosis over lower back and buttocks. However, the patient had severe anemia and MRI brain findings revealed global hypovolemic brain changes in the form of dilated ventricles and widened cortical sulci, multiple old vascular insults and aneurismal dilatation of right internal carotid artery (ICA) which are consistent with MOPD II

Cornelia-de Lange syndrome in an Egyptian infant with unusual bone deformities

AbstractWe report a 4month old female infant with the typical features of Cornelia-de Lange syndrome. What was striking in our patient was the presence of skeletal anomalies not reported previously. These included arachnodactly of both fingers and toes, flexion of thumbs at metacarpophalengeal joints, bilateral short big toes, angulation of the lower part of the bones of right forearm and both legs with multiple skin folds. Also biochemical and X-ray evidence of rickets was detected mostly due to malnutrition and failure to thrive. The patient died at the age of 5months with bronchopneumonia and gastroenteritis

Trichorhinophalangeal syndrome II, expanding the clinical spectrum

AbstractWe report a 4.5year old Egyptian male child, fourth in the order of birth of healthy remote consanguineous parents. He has typical facial as well as skeletal features of Trichorhinophalangeal syndrome (TRPS) II. The facial features included bilateral downward slanting palpebral fissures, bulbous nose, long filtrum, retromicrognathia, sparse hair in the scalp and thick eyebrows. The skeletal features included retarded bone age, cone shaped epiphyses of the phalanges and multiple exostoses. The patient has also growth retardation, moderate mental retardation and hyperlaxity of the right knee joint. However our patient has some features not reported in TRPS II patients. These included bilateral partial ptosis, long eye lashes, preauricular skin tag, short 2nd right finger, short metacarpals of both thumbs. So we have to expand the clinical spectrum. Karyotype demonstrated 46,XY,del 8(q23.3-q24.1)

Magnetic resonance imaging of head and neck vascular anomalies: pearls and pitfalls

Purpose: The aim of this study was to describe typical MRI features of the head and neck vascular anomalies and the possible diagnostic pitfalls.Patients and methods: Patients with extracranial vascular anomalies of the head and neck, who underwent MRI examinations between January 2013 and January 2016, were included in the study. Precontrast and postcontrast T1-WI,T2-WI, with and without fat saturation were acquired. When indicated, a noncontrast MR angiography was performed. Dynamic postcontrast MRI techniques were available in six children.Results: The study included 33 patients (age ranged from 10 to 20 years, mean: 49 months). MRI confirmed the clinical diagnosis in equivocal cases, and provided proper determination of lesion extension and/or associated intracranial anomalies. The study included 10 cases of vascular tumors (hemangioma), whereas the remaining 23 cases had the diagnosis of vascular malformations (one patient with arteriovenous malformation, one with capillary malformation, seven with venous, nine with macrocystic lymphatic, and five with microcystic lymphatic malformations).Conclusion: Vascular anomalies in the head and neck are mostly diagnosed on clinical basis; however, when the history is uncertain or the diagnosis is equivocal, a well-tailored MR examination can be a single valuable diagnostic tool providing structural and functional information.Keywords: children, head and neck, hemangioma, lymphatic malformation, magnetic resonance angiography, venous malformatio

The so-called Y-type urethral duplication: anatomical insights through controversial terminology

Abstract Background Y-type urethral duplication is a term frequently used to describe a rare condition in the male associated with double urinary stream: a weak interrupted urinary stream through a hypoplastic penile urethra, while the main urine flow is through the anus/perineum via accessory posterior channel. Fortunately, the advent of MRI has provided a powerful tool to study these anomalies in depth and on multiple planes. The study included boys presenting with abnormal micturition through the anus beside weak interrupted urine stream through the penis. Investigations included pelviabdominal ultrasound to screen for possible associated upper urinary tract anomalies, conventional contrast X-ray studies, and pelvic MRI. Results During the period between 2016 through 2021, the study included two newly diagnosed cases with abnormal communication between the lower urinary tract and the anus (the so-called Y-type urethral duplication), in addition to one previously reported case whose preoperative imaging studies (including pelvic MRI) were available for analysis. Different surgical solutions have been applied for each case. Hypoplasia was not only restricted to the penile urethra but also affected the corporeal bodies of the penis with variable degrees. In two cases, only a single corporeal body could be identified. In another case, the three corporeal bodies were present but appeared distorted (irregularities and interruption of corporeal bodies). Conclusion In our present study, pelvic MRI examination clearly unveiled significant degrees of corporeal dysgenesis among cases diagnosed as Y-type urethral duplication that would strongly suggest these cases to belong to the same disease spectrum of penile dysgenesis/agenesis

Moebius syndrome with macular hyperpigmentation, skeletal anomalies, and hypoplasia of pectoralis major muscle in an Egyptian child

We report a 4 month old female infant, 3rd in order of birth of the first cousin consanguineous parents. The patient has congenital right facial nerve palsy, with asymmetry of facial expression during crying and difficulty in swallowing. Associated anomalies include abnormal facial features, bilateral finger anomalies, bilateral talipes equinovarus, kyphoscoliosis, hypotonia, high frequency hearing loss. Bilateral macular hyperpigmentation was detected in our patient on fundus examination which was not reported previously in Moebius syndrome cases. In addition there is hypoplasia of the right pectoralis major muscle

Baraitser–Winter syndrome: An additional Egyptian patient with skeletal anomalies, bilateral iris and choroid colobomas, retinal hypoplasia and hypoplastic scrotum

We report a 3.5 year old male child, second in order of birth of non consanguineous Egyptian parents with Baraitser–Winter syndrome (BRWS). The patient had bilateral colobomas of the iris and choroid. Our patient had also retinal hypoplasia, which was not reported previously in this syndrome, bilateral congenital ptosis, hypertelorism, moderate mental retardation, short stature, short neck, hyperextensibility of the joints of the hands, talipes equinovarus, kyphoscoliosis and unilateral hypoplastic scrotum and testis

Unilateral proximal focal femoral deficiency, fibular aplasia, tibial campomelia and oligosyndactyly in an Egyptian child – Probable FFU syndrome

We report a fifteen month old Egyptian male child, the third in order of birth of healthy non consanguineous parents, who has normal mentality, normal upper limbs and left lower limb. The right lower limb has short femur, and tibia with anterior bowing, and an overlying skin dimple. The right foot has also oligosyndactyly (three toes), and the foot is in vulgus position. There is limited abduction at the hip joint, full flexion and extension at the knee, limited dorsiflexion and plantar flexion at the ankle joint. The X-ray of the lower limb and pelvis shows proximal focal femoral deficiency, absent right fibula with shortening of the right tibia and anterior bowing of its distal third. The acetabulum is shallow. He has a family history of congenital cyanotic heart disease. Our patient represents most probably the first case of femur fibula ulna syndrome (FFU) in Egypt with unilateral right leg affection. We suggest that the condition in our patient may be due to a rare autosomal dominant mutation with possible gonadal mosaicism and with variable expression in the family, as limb anomaly in one child and cyanotic congenital heart disease in another child

The value of CSF flow studies in the management of CSF disorders in children: a pictorial review

Abstract CSF flow disorders are frequently encountered in children. The advent of MR technology with the emergence of new pulse sequences allowed better understanding of CSF flow dynamics. In this pictorial review, we aim to conduct a comprehensive review of the MR protocol used to study CSF flow disorders and to discuss the utility of each pulse sequence in the adopted protocol. We will focus on the key anatomical structures that should be examined to differentiate hydrocephalus form ventricular dilatation ex-vacuo. The MR features of obstructive and communicating hydrocephalus will be discussed, in addition to the manifestations of CSF disorders associated with posterior fossa malformations (Dandy-Walker malformation, Chiari, and Blake’s pouch cyst). Moreover, the value of MRI in the assessment of patients following interventional procedures (ventriculoperitoneal shunt and third ventriculostomy) will be addressed

Diagnostic benefit of MRCP in hepatopancreaticobiliary diseases

Objective: This study aimed at determination of the diagnostic benefit of MRCP as a noninvasive method to evaluate the hepatopancreaticobiliary disorders in children. Materials and methods: The study retrospectively enrolled 34 patients undergoing MRCP for suspected hepatopancreaticobiliary abnormalities. MRCP findings were compared with other imaging modalities, ERCP or operative findings. Results: MRCP had overall sensitivity, specificity, and diagnostic accuracy of 93.5%, 100% and 94.1% respectively in detecting the etiology of hepatopancreaticobiliary diseases in our patients. Positive predictive value was 100% while the negative predictive value was 62.5%. Conclusion: MRCP is a fast, non-invasive method for diagnosing hepatopancreaticobiliary disorders in children with high diagnostic accuracy, sensitivity and specificity. MRCP doesn’t involve the use of ionizing radiation which is suitable for children. Thus, MRCP ought to be the standard diagnostic procedure in the future