Full-term Girl Research Articles

A case of successful delivery in a patient with large uterine leiomyoma

Uterine leiomyoma occurs in women over 35 years of age in 25–30% and in pregnant women in about 3–12%. However, in 10% of pregnant women, it turns out to be an accidental finding and is detected by ultrasound examination in the first trimester of pregnancy Approximately 10–30% of pregnant women with uterine leiomyoma have complications during pregnancy, childbirth and the postpartum period. The article demonstrates a case of successful delivery in a patient with uterine myoma at full-term pregnancy with preservation of reproductive function in a maternity hospital of the 3rd level. In the period of 38–39 weeks, the patient was hospitalized in the maternity hospital. By the decision of the council, the pregnant woman was prepared for a planned operative delivery. A lower median laparotomy was performed for adequate access. Performed caesarean section in the lower segment according to Defler. During the operation, a live, full-term girl weighing 3600 g and height 53 cm, 7/8 points on the Apgar scale was extracted. On the left, along the anterior surface of the uterus in the bottom area, a subserous myomatous node on a pedicle is determined, measuring 300*220*150 mm. Blunt and sharp dissection of adhesions was performed, followed by removal of a myomatous node weighing more than 1 kg. The postoperative period was uneventful. The patient was discharged on the 5th day. In our clinical case, a successful myomectomy was performed during a planned caesarean section. This type of surgery can be considered a safe option in carefully selected cases and a cost-effective method. However, this method should be performed by experienced surgeons who are skilled in the technique and take into account the size and location of the myomatous node.

Mimickers of Classical Urticaria: Cryopyrin-Associated Autoinflammatory Syndrome Presenting as Isolated Urticaria in an Infant

A 5-month-old full-term girl presented as an outpatient with an urticarial rash, lymphocytosis, and eosinophilia after 2 previous hospitalizations for rhino/enterovirus infection. She exhibited a blanching, urticarial eruption with well-demarcated irregular borders and generalized distribution including the palms, soles, and face (Figure 1). The rash was not associated with cold, pruritus, bruising, or hyperpigmentation. The rash appeared within 48 hours of life and varied in severity, though never exhibited a period of complete resolution. The patient was otherwise well-appearing, with no history of fever, oral ulcers, purpura, arthropathy, lymphadenopathy, conjunctivitis, or dysmorphia. She initially had slow weight gain and intermittent bloody stools, both of which resolved with transition to extensively hydrolyzed formula at 1 month of age.

Jarcho-Levin syndrome in Pakistan: a case report and review of 321 cases on the principles of diagnosis and management

BackgroundJarcho-Levin syndrome (JLS) is a genetic condition that constitutes specific vertebral anomalies combined with coastal or thoracic anomalies due to specific gene mutations. Although the condition is associated typically to Puerto-Ricans, we describe the novel case of JLS in a Pakistani family that presented with respiratory distress secondary to the condition.Case presentationThe case is a full-term girl that had a webbed neck with an undefined chest deformity. Radiology showed kyphoscoliosis and a crablike chest. Early identification of these high morbidity conditions is key to allow for optimal treatment and improved outcomes.ConclusionsWe have provided a brief breakdown of the management principles of the condition and more than 80 years after the first case of Jarcho-Levin syndrome was reported, we present the diagnostic criterion for JLS.

Inguinal hernia containing the uterus and both adnexa in a full-term infant

We report a case of inguinal hernia that contained the entire uterus and both adnexa, presenting with an irreducible soft mass in the left groin and asymmetric labia majora, in a 2-month-old, full-term girl who visited the emergency department. Ultrasonography was performed immediately, and urgent surgical repair was performed without complications. Although inguinal hernia is a common surgical disease, it is rare that the hernia contains the uterus with its adnexa, and presents as a mass of the labia majora. Unlike the bowel herniation, the entity can be complicated by strangulation of the ovary, leading to infertility. To preserve fertility, rapid and accurate diagnosis using ultrasonography should be considered in an infant with an irreducible inguinal mass and asymmetric labia majora.

Increasing Head Circumference and Jaundice in a 4-week-old Infant

1. Marlisa Wolf, MD* 2. Komal Desai, MD* 3. Esther Kisseih, MD*,† 4. Beena Sood, MD*,†,‡ 1. *Children’s Hospital of Michigan, 2. †Neonatology Division 3. ‡Wayne State University School of Medicine Detroit, Michigan A 4-week, full term girl presents to the NICU for jaundice present since 1 week of age and increasing head circumference for over a week. She was born after an uneventful 41-week pregnancy. Family history was significant for Gilbert disease in the father. She has been exclusively breastfed since birth. At 2 weeks of age, she was seen in the emergency department for vomiting after each feeding and jaundice. An abdominal ultrasound showed no evidence of pyloric stenosis; treatment with ranitidine was initiated for suspected gastroesophageal reflux disease. Her clinical jaundice was attributed to breastmilk, and no further laboratory evaluation was completed. At 4 weeks of age, her mother brought the infant to the referring hospital for evaluation of persistent jaundice, increasing head circumference, frequent bruising, and epistaxis. It was confirmed that her head circumference had increased from 33.5 cm (14.5%) at birth to 42 cm (99%) at 4 weeks of age. She was noted to have prolonged bleeding from her intravenous site. Liver evaluation revealed a direct hyperbilirubinemia (total bilirubin of 7.9 mg/dL [135 μ mol/L] with direct bilirubin of 3.9 mg/dL [67 μ mol/L]), and elevated enzyme levels (alanine aminotransferase 83 U/L [1.38 microkatal (ukat)/L], aspartate transaminase 163 U/L [2.7 ukat/L], and alkaline phosphatase 328 U/L [5.47 ukat/L]). She was transferred to our level IV NICU for further management. ### Patient Clinical Course The physical examination upon presentation to the NICU was remarkable for macrocephaly, a bulging anterior fontanelle, icterus, and multiple petechiae. Differential diagnoses included infection, biliary abnormalities including biliary atresia, and late onset hemorrhagic disease of the newborn for which laboratory and radiographic evaluation was initiated. Although the …

A Case Report Wandering Spleen in a Young Primiparous Woman Treated by Laparoscopic Splenectomy: A Case Report

Background: Wandering spleen (WS) is an uncommon splenic disorder defined as the displacement of the spleen from its usual anatomical position. It is most prevalent in females in their reproductive age. It can be encountered incidentally or may present with symptoms. Risks of complications exist and vary with the presentation. Several imaging techniques are able to define it clearly preoperatively. Laparoscopic surgery is the definitive diagnostic and therapeutic method. Case Report: A 24-year-old pregnant female patient presented to the Emergency Department complaining of intermittent dull abdominal pain and pelvic heaviness for 9 days. Contrast- Enhanced Computed Tomography and a color Doppler sonography of the abdomen and pelvis showed a large-sized spleen in the pelvis corresponding to a diagnosis of WS, without ischemic signs. The patient underwent a laparoscopic splenectomy and was vaccinated for Haemophilus influenza, meningococcus, and pneumococcus postoperatively. The post-operative period was uneventful, and the patient later delivered a full-term baby girl by a Cesarean section. Conclusion: This is, to the best of our knowledge, the second reported case of laparoscopic splenectomy in a pregnant patient with WS. While splenopexy is associated with better outcomes, splenectomy seems to be preferred in pregnant patients, who may undergo a vaginal delivery, but guidelines and data are still scarce regarding the management of WS in pregnancy. Vaccination against encapsulated bacteria is required in case of splenectomy

Successful pregnancy and weight loss management in a woman unknowingly pregnant at the time of bariatric surgery: a case report

BackgroundPreventing unintended pregnancy is an important issue for women undergoing bariatric surgery, not only to avoid an adverse fetal outcome but to also ensure maximum weight loss for mother. Current guidelines strongly advise to use a reliable method of contraception following surgery and to delay pregnancy for 12–18 months after surgery.Case presentationWe present the case of a woman who underwent laparoscopic sleeve gastrectomy while she was unknowingly pregnant. She was monitored closely throughout her pregnancy for maternal-fetal wellbeing and delivered a healthy full-term girl. At her last follow-up visit 6 months post-delivery, both mother and infant were in good general condition and the mother achieved 94.4% excess weight loss.ConclusionsIn all-female patients of childbearing age planning to undergo bariatric surgery, pregnancy should be avoided by using a reliable method of contraception well before surgery. Pregnancy should also be excluded on the day of surgery.

Restoration of fertility in a woman with giant prolactinoma in response to cabergoline treatment.

A 32-year-old woman presented with primary amenorrhoea, prolactin (PRL) level of 154 150 mIU/L and was diagnosed with a giant pituitary adenoma measuring maximum 6.2 cm. Cabergoline (CAB) treatment at a dose of 0.5 mg/week was prescribed to the patient. The treatment decreased the tumour size after 3 months (MRI scans of the brain) and brought back to normal the level of the PRL (345 mIU/L) after 6 months of CAB treatment. After 7 months of CAB treatment, menarche was achieved, and after 12 months, the patient became pregnant. She discontinued taking CAB at 4-week gestation. The pregnancy resulted in a missed miscarriage at 6-7 weeks; an abortion was conducted by the vacuum aspiration method. The MRI scans of the brain did not show any tumour enlargement. After 18 months from the start of the treatment the patient got pregnant for the second time. At 25-week gestation an MRI scan of the brain was conducted which did not show any increase in the tumour size. At 38 weeks the patient delivered a healthy full-term girl via C-section. The patient chose not to breastfeed and resumed CAB therapy after the delivery. During the treatment, the PRL level returned to the normal range and the menstrual cycle was restored. After 3 years the patient got pregnant for the third time. The patient did not receive CAB during the pregnancies; the examination did not show any tumour enlargement. Further MRI scans did not show any tumour growth. CAB therapy was effective in normalization of the PRL level, tumour shrinkage, menarche and pregnancy-induction which led to the birth of healthy children in a woman with primary amenorrhoea and a giant prolactinoma invading the skull base bones. Giant prolactinomas are very rarely found in women. Cabergoline therapy can be effective in the normalization of the PRL level, tumour shrinkage, menarche induction in a woman with primary amenorrhoea, and giant prolactinoma. Cabergoline therapy can be effective in pregnancy induction which leads to the birth of children in a woman with giant prolactinoma. Cabergoline discontinuation did not trigger tumour enlargement during pregnancy.

A case of successful systemic thrombolysis in massive thromboembolia of pulmonary artery against the background of pregnancy

We present a clinical case of successful systemic thrombolysis in a pregnant patient with massive pulmonary embolism. A 29-year old patient at 28 weeks of pregnancy was hospitalized 2 hours after sudden suffocation in a presyncopal state and hypotension of 90/50 mm Hg. ECG showed the signs of overload of right heart chambers in the form of a typical S1-Q3-T3 (McGinn–White) syndrome, as well as the Kosuge sign. Echocardiography verified pulmonary 3 Grade hypertension (81 mm Hg), enlargement of the right atrium and ventricle, 3 Grade tricuspid regurgitation and paradoxical movement of the interventricular septum. Multislice computed tomography of the chest with contrast of the pulmonary artery revealed a defect of contrast in the right main pulmonary artery, occlusive clearance, and thrombotic mass, extending to the bifurcation of the left main pulmonary artery ("clot - rider"). Thrombolytic therapy was started with recombinant tissue plasminogen activator (alteplase 10 mg bolus, then 90 mg for 2 hours). The patient was daily examined by a gynecologist. The viability of the fetus, monitoring of possible hemorrhagic complications of the placenta were evaluated. After thrombolysis, the patient began to note clinical improvement in the form of a regression of dyspnea. According to echocardioscopy control, the signs of overload of right heart chambers completely regressed. There were no complications both in the mother and in the fetus during the subsequent days until discharge. On 25.05.16 there was uncomplicated delivery vaginally of live full-term girl. Thus, when there is life-threatening massive pulmonary embolism, the application of General principles of diagnosis and treatment of this disease in patients with pregnancy is warranted. The carrying out of thrombolytic therapy in massive pulmonary embolism enables to reduce the manifestations of pulmonary hypertension, right ventricular failure, and to conduct births on time. Used intravenous thrombolytics have no teratogenic effect in the later stages of pregnancy.Received 18 April 2017. Accepted 5 June 2017.Funding: The study did not have sponsorship.Conflict of interest: The authors declare no conflict of interest.

Normosmic hypogonadotropic failure

Currently, mutations have been described in a number of genes encoding proteins that control the release of LH-RH by hypothalamus. One such protein is itself LH-RH (gene GNRH1), its receptor (GNRH1-R), the controller allocation hypothalamus LH-RH protein Kisspeptin (KISS1), receptor Kisspeptin (KISS1-R), another regulator of release of LH-RH neurokinin B gene (TAC3) and its receptor neurokinin B (TAC3-R). In infertility clinic were admitted two patients with isolated hypogonadotropic hypogonadism form. Both patients were observed during the lifetime of low-levels of FSH and LH and primary amenorrhea. At the same time indicators of ovarian reserve, as measured by the AMH were sufficient for ovarian stimulation Patients are at lifelong hormone replacement therapy. In order to induce the growth of follicles patients received preparations containing exogenous FSH and LH. Given the presence of male factor infertility, in both patients was used intracytoplasmic sperm injection (ICSI ) as a method of fertilization. In both patients were received 5 and 8 eggs, and 4 and 6 embryos, respectively. In each patient were transferred two embryos. In both patients were achieved clinical pregnancies. In the first patient pregnancy stopped at 8th week for an unknown reason, the other patient delivered a full-term baby girl alive. These data demonstrate the high efficiency of the treatment of infertility in women with normosmic hypogonadotropic failure. In genetic analysis revealed that the first patient is a carrier of a mutation in the gene receptor LH-RH (GNRH1-R) in both alleles, whereas the second patient is a heterozygous for this gene variant.

PO-0714 Respirometry Of Platelets Suggests Mitochondrial Disorder In A Newborn Infant With Lethal Hepatopathy And Encephalopathy

<h3>Background and aims</h3> Rapid diagnosis of mitochondrial disorder is difficult in newborn infants with metabolic crisis. We studied whether respiratory chain disorder can be assessed from circulating platelets. <h3>Methods</h3> A full-term girl of consanguineous parents was born after uncomplicated pregnancy (2690 g, Apgar 10/10/10). On day one she was transferred to NICU with metabolic acidosis (pH 7.11, pCO₂2.8, BE -24, lactate 19 mmol/l). CSF/plasma lactate ratio (5.3/6.9) was increased. Cerebral MRI revealed diffuse changes in pyramidal tract and internal capsule. On day 4 she developed hepatic failure, conjugated hyperbilirubinemia and slight hyperammonemia. Urine metabolic analysis revealed increased 3-methylglutaconic acid (160 mmol/mol creatinine), and 4-hydroxyphenyllacetate suggestive of mitochondrial disorder. Respirometry (Oroboros Oxygraph, SUIT-protocol) was performed on blood cells. Isolated mitochondria from fibroblasts and liver were assessed with Blue Native-PAGE (BNGE) for respiratory chain complex assembly. Intensive care was withdrawn because of deterioration, and postmortem biopsies performed. <h3>Results</h3> Respirometry on platelets showed a borderline oxygen consumption. Histology of muscle was normal, liver was cholestatic with iron accumulation. In fibroblasts, respiratory chain complex assembly was normal, but in liver levels of Complexes I, III and IV were decreased. Whole genome sequencing identified the candidate genes <i>Sycp2</i>, <i>Clybl</i> and <i>Foxred1</i>. The deficient complexes all possess mtDNA encoded subunits thus nuclear encoded translator mutation or other mtDNA related mutation might be causative. <h3>Conclusions</h3> Respirometry from blood cells might suggest mitochondrial dysfunction that can be verified by structural analyses of respiratory chain complexes from the target organ. Causative mutation might be achieved with next generation sequencing.

Spontaneous Rupture of Solid Pseudopapillary Neoplasm of the Pancreas During Pregnancy

Spontaneous rupture of solid pseudopapillary neoplasm of the pancreas is an unusual complication during pregnancy. At 19 weeks of gestation, a 29-year-old woman presented with a pancreatic mass and upper abdominal pain radiating to the back. On the third day of admission, shock and peritoneal signs developed. Exploratory laparotomy and subsequent subtotal pancreatectomy were performed for a bleeding tumor. Solid pseudopapillary neoplasm was confirmed by pathological examination. The patient delivered a healthy full-term girl vaginally. Eight months postoperatively, the clinical courses of both mother and infant have been uneventful. Ruptured solid pseudopapillary neoplasms can cause an acute abdomen during pregnancy. The expression of progesterone receptors in solid pseudopapillary neoplasm is a possible cause of this potentially devastating event.

Microcephalic osteodysplastic primordial dwarfism (MOPD) type I with lissencephaly and brain cyst

We are reporting a very rare case of primordial dwarfism associated with lissencephaly and brain cyst, in a full term (37weeks) girl, who had extreme low birth weight (580g), delivered vaginally with good APGAR score (6 and 7) at 1 and 5min, respectively. The mother was healthy, para 0+1, 20years old, had previous abortion and had no risk factors for severe intra uterine growth retardation (IUGR). Parents were non consanguineous. Although the baby had extreme low birth weight (ELBW) she did not need any ventilatory support till discharge from the hospital and was discharged home sucking well with weight on discharge 1.2kg. The baby had typical features of primordial dwarfism MOPD type I and to our knowledge this is the first time to report such a rare case from Kuwait. Also the patient had lissencephaly and brain cyst which were not reported previously.

Visual Diagnosis: Vesicular Rash in a 28-day-old Girl

1. Marta A. King, MD* 2. Emily A. Thorell, MD† 1. *Division of Inpatient Medicine, Department of Pediatrics, University of Utah, Salt Lake City, UT 2. †Division of Infectious Disease, Department of Pediatrics, University of Utah, Salt Lake City, UT * Abbreviations: CNS: : central nervous system DFA: : direct fluorescent antibody HSV: : herpes simplex virus PCR: : polymerase chain reaction SEM: : skin, eyes, and mouth VZV: : varicella-zoster virus A 28-day-old, previously healthy, full-term girl presents to the emergency department after 2 days of irritability and 1 day of a rash. She has had no fevers, hypothermia, cough, congestion, increased work of breathing, easy bleeding or bruising, jaundice, or other symptoms. She was born via a scheduled repeat cesarean delivery at 38 weeks’ gestation after an uncomplicated pregnancy. Her mother received adequate prenatal care and had no serologic evidence of prenatal infections. After 3 days in the well-infant nursery, the child was discharged. No one at home is currently ill; however, the patient’s 8-year-old sister had a “cold sore” ∼2 weeks before admission. On approximately day 10 after birth, the patient’s mother had an outbreak of painful “itchy blisters” that started on her lower back, then spread to the inguinal region and abdomen, appearing most prominently over her cesarean delivery scar. She does not remember whether the rash was unilateral or bilateral. The lesions have scabbed over and resolved. The mother has never had a similar rash in the past and denies a history of herpes or other sexually transmitted infections. Both parents had chickenpox during childhood. The older siblings have been fully immunized. Family history is unremarkable for any immunodeficiencies or inherited childhood diseases. Physical examination reveals an afebrile, somewhat fussy but consolable girl infant. Vital signs are all within normal range. Skin findings reveal ∼20 vesicles with an erythematous base that are scattered over the face (Fig 1), trunk, legs, plantar surfaces (Fig 2), and buttock. The patient has normal work of breathing, no hepatosplenomegaly, and no mucous membrane involvement. The remainder of her physical examination is …

A rare association of tetralogy of Fallot and hypertrophic cardiomyopathy

Tetralogy of Fallot (TOF) is the most common form of cyanotic congenital heart disease. It is often associated with other congenital cardiac or non-cardiac defects. However, its association with hypertrophic cardiomyopathy (HCM) is rarely reported. We reported two cases. The first case is a full-term girl receiving modified Blalock-Taussig shunt creation and the second case is an 8-month old boy receiving total correction for TOF. Although they tolerated the operation well, both of them developed congestive heart failure and died of malignant cardiac arrhythmia several months after the operation. We made a literature review and only 11 case reports were found. There is currently no treatment guideline for this group of patients. From our limited experience and case reports, the physiology of HCM and TOF should both be taken into consideration when managing these patients. Close echocardiography follow-up with early myectomy and preventive implantation of implantable cardioverter-defibrillator may be beneficial for them.

Frontonasal dysplasia (Median cleft face syndrome)

This is a report of a rare case of frontonasal dysplasia (FND) in a full-term girl with birth weight of 2.750 kg. The baby had the classical features of FND. There were no other associated anomalies. There was no history of consanguinity and no family history of similar conditions. So inheritance of this case could be considered sporadic. Maxillofacial surgery should be considered for all patients for whom improvement is possible. However, in developing countries where there are considerable limitations in provision of social services, with economic and educational constraints, correction of such major defects remains a challenging task.

Accidental out-of-hospital delivery complicated by acute neonatal parotitis: Case report and a review of the literature

Neonatal suppurative parotitis is a rare and unusual infection. It presents with swelling, pain and erythema over the affected gland. The most common causative organism is Staphylococcus aureus. The infection is thought to be an ascending infection from the oral cavity. Most cases are managed conservatively with antibiotics. We present the case of a 10-day old, full-term girl who presented with restlessness and a fever. The delivery was an out-of-hospital unattended delivery that took place near the hospital parking facility. The child was offered antibiotic preventive treatment due to the contaminated delivery but the parents declined. The patient was admitted to the pediatric ward for a full workup of neonatal fever. Empiric antibiotic treatment was commenced. After admission an erythematous swelling was seen over the left preauricular area. Intraorally, pus was seen draining from the left Stensen duct. These findings were compatible with acute parotitis. Pus from the oral cavity grew Staphylococcus aureus . Acute suppurative parotitis is rare in the neonatal period. In the past 42 years, only 38 cases have been described in the English language medical literature. Parotitis is unilateral in most cases. We discuss the typical presentation and pathogenesis of this disorder. Unplanned, unattended and out-of-hospital deliveries carry an increased risk of perinatal morbidity and mortality. It is possible that the contaminated delivery and the parental refusal of prophylactic antibiotic treatment contributed to the onset of infection in this case.

Coxa vara with proximal femoral growth arrest as a possible consequence of extracorporeal membrane oxygenation: a case report

Abstract Coxa vara is an abnormality of the proximal femur with a decreased neck-shaft angle and resulting leg-length discrepancy, has been associated with conditions such as congenital coxa vara, traumatic injury, sepsis, rickets, vascular damage, or metabolic disorders; however its possible relationship with extracorporeal membrane oxygenation has been recently reported. A full term girl was born with a total infradiaphragmatic anomalous pulmonary venous drainage, at the age of 12 days, an anastomosis of the pulmonary venous trunk with the left auricle and closure of the auricular septal defect was performed; during this procedure extracorporeal membrane oxygenation was used during 104 minutes, no neonatal sepsis was developed. She had no orthopedic issues until she was 3 years and 10 months old, when she presented with limp related to the right lower limb, with no pain. She had a leg-length discrepancy of 2 cm (right - left), limited right hip abduction to 25°, and internal rotation to 5°, also had a positive Trendelenburg test. No flexion/extension abnormalities. Anteroposterior radiographs and magnetic resonance revealed coxa vara with proximal femoral growth arrest. A valgus osteotomy with greater trochanteric epiphysiodesis was performed. At the eight month follow-up, she had no hip pain, better hip range of motion, no difficulties with recreational activities and the osteotomy healed. Another four similar cases had been reported with similar outcome, we think that it will be recommendable to take images in patients with this background and limb leg-length discrepancy or abnormal range of motion.

Coxa vara with proximal femoral growth arrest as a possible consequence of extracorporeal membrane oxygenation: a case report

Coxa vara is an abnormality of the proximal femur with a decreased neck-shaft angle and resulting leg-length discrepancy, has been associated with conditions such as congenital coxa vara, traumatic injury, sepsis, rickets, vascular damage, or metabolic disorders; however its possible relationship with extracorporeal membrane oxygenation has been recently reported.A full term girl was born with a total infradiaphragmatic anomalous pulmonary venous drainage, at the age of 12 days, an anastomosis of the pulmonary venous trunk with the left auricle and closure of the auricular septal defect was performed; during this procedure extracorporeal membrane oxygenation was used during 104 minutes, no neonatal sepsis was developed. She had no orthopedic issues until she was 3 years and 10 months old, when she presented with limp related to the right lower limb, with no pain. She had a leg-length discrepancy of 2 cm (right - left), limited right hip abduction to 25°, and internal rotation to 5°, also had a positive Trendelenburg test. No flexion/extension abnormalities. Anteroposterior radiographs and magnetic resonance revealed coxa vara with proximal femoral growth arrest. A valgus osteotomy with greater trochanteric epiphysiodesis was performed. At the eight month follow-up, she had no hip pain, better hip range of motion, no difficulties with recreational activities and the osteotomy healed.Another four similar cases had been reported with similar outcome, we think that it will be recommendable to take images in patients with this background and limb leg-length discrepancy or abnormal range of motion.

Encephalocraniocutaneous Lipomatosis (Haberland’s Syndrome) - A Case Report of a Neurocutaneous Syndrome and a Review of the Literature

We present the case of a full-term girl born to non-consanguineous parents. Physical examination revealed a large (14 x 6 centimeters) hairless lesion on the right frontal-parietal scalp (Fig.1), multiple nodular lesions of the right upper eyelid and eyebrow, and a reddish bulbar conjunctival lesion on the right eye consistent with choriocystoma (Fig.2).A CT scan of the brain showed cranial asymmetry, an arachnoid cyst of the right middle fossa, a right frontal subdural collection, a porencephalic cyst, hemiatrophy of the right hemisphere, and cortical calcifications of the parietal and occipital lobes (Fig.3).At the age of two years, the patient underwent a complete excision of the scalp lesion after tissue expansion and excision of the nodules on the eyelid (Fig.4). The histopathological examination of the scalp lesion showed absence of hair follicles, a thinned dermis, and extended adipose tissue into the dermis; the cutaneous nodules were