Infantile masturbation in an African female: is this a justification for female genital cutting?

Background  Masturbation is a taboo and not discussed openly in Africa. It is still worse when it occurs in an infant and will thus call for a visit to the traditional healers for ‘spiritual intervention’ and prompt female genital cutting/mutilation to reduce the child’s libido and risk of sexual promiscuity as she gets older. Because of its peculiar presentation in children without manual genital stimulation, it is often misdiagnosed. A Medline search showed sparse information on infantile masturbation and none from Africa. Methods  A 15-month-old female was brought into a clinic in Port Harcourt, Nigeria, with a history of unusual rocking with adduction of the thighs noticed since 3 months of age. At 10 months of age, the child would lean forward and rock continuously on a hard surface such as a chair or an adult’s lap. Rocking was accompanied with lip smacking, eye rolling, shaking, “watching of television in the air”, spasm and feeling of fatigue and then resumption of the motions unless she was distracted. The child had been spanked occasionally by both parents with no noticeable change in behavior. Older female relatives had suggested female genital cutting or circumcision, but her father resisted vehemently. Results  Infantile masturbation was viewed by the pediatrician and a 10-minute video recording was taken to confirm the diagnosis. The mother was reassured, counseled about behavioral and environmental modification. There was a marked improvement when the baby was seen 6 weeks later. Conclusions  Infantile masturbation rarely diagnosed in our region is probably due to a low index of suspicion and because mothers are afraid of stigma. We suggest that infantile masturbation should always be considered as a differential diagnosis of strange movement mimicking epilepsy in infants, and when a diagnosis is made parents should be counseled against female genital cutting. A video recording is encouraged fora correct diagnosis.     

Gratification disorder ("infantile masturbation"): a review.

BACKGROUND: Little has been published on gratification disorder ("infantile masturbation") in early childhood. AIMS: To expand on the profile of patients diagnosed with this condition. METHODS: Retrospective case note review; Fraser of Allander Neurosciences Unit paediatric neurology outpatient department 1972-2002. RESULTS: Thirty one patients were diagnosed (11 males and 20 females). Twenty one were referred for evaluation of possible epileptic seizures or epilepsy. The median age at first symptoms was 10.5 months (range 3 months to 5 years 5 months). The median age at diagnosis was 24.5 months (range 5 months to 8 years). The median frequency of events was seven times per week, and the median length 2.5 minutes. Events occurred in any situation in 10 children, and in a car seat in 11. Types of behaviour manifested were dystonic posturing in 19, grunting in 10, rocking in 9, eidetic imagery in 7, and sweating in 6. Two children had been previously diagnosed as having definite epilepsy. In nine cases home video was invaluable in allowing confident diagnosis. CONCLUSION: Gratification disorder, otherwise called infantile masturbation, is an important consideration in the differential diagnosis of epilepsy and other paroxysmal events in early childhood. Home video recording of events often prevents unnecessary investigations and treatments.     

Gratification disorder ("infantile masturbation"): a review

Background: Little has been published on gratification disorder ("infantile masturbation") in early childhood. Aims: To expand on the profile of patients diagnosed with this condition. Methods: Retrospective case note review; Fraser of Allander Neurosciences Unit paediatric neurology outpatient department 1972–2002. Results: Thirty one patients were diagnosed (11 males and 20 females). Twenty one were referred for evaluation of possible epileptic seizures or epilepsy. The median age at first symptoms was 10.5 months (range 3 months to 5 years 5 months). The median age at diagnosis was 24.5 months (range 5 months to 8 years). The median frequency of events was seven times per week, and the median length 2.5 minutes. Events occurred in any situation in 10 children, and in a car seat in 11. Types of behaviour manifested were dystonic posturing in 19, grunting in 10, rocking in 9, eidetic imagery in 7, and sweating in 6. Two children had been previously diagnosed as having definite epilepsy. In nine cases home video was invaluable in allowing confident diagnosis. Conclusion: Gratification disorder, otherwise called infantile masturbation, is an important consideration in the differential diagnosis of epilepsy and other paroxysmal events in early childhood. Home video recording of events often prevents unnecessary investigations and treatments.     

Infantile masturbation and paroxysmal disorders

A recurrent paroxysmal presentation in children leads to different diagnoses and among them are neurologic and cardiac etiologies. Infantile masturbation is not a well known entity and cannot be differentiated easily from other disorders. Aim of this study is to elucidate and differentiate this condition from epileptic seizures. We report 3 cases of 10 to 30 mth old girls of infantile masturbation that their symptoms initiated at 2, 3 and 8 mth of age. These present with contraction and extension of lower extremities, scissoring of legs, perspiration, changing face color. In 2 cases body rocking and legs rubbing initiated then there after. Masturbation is one of the paroxysmal non-epileptic conditions of early infancy and is in differential diagnosis of epileptic seizures.     

Wilms'tumour in infancy

During a 15-y period, 48 children were treated for Wilms'tumour (WT). Seven of them were <1 y of age at diagnosis. One child presented with non-traumatic haematuria, but in all the other children WT was revealed as a palpable abdominal mass at routine examination or investigation due to another disease. The four children under 6 months of age at diagnosis were primarily operated upon; the others received preoperative chemotherapy. Two children had chromosomal aberrations in the WT tumour specimen. The follow-up revealed that postoperatively six children are healthy with no evidence of relapse from WT, but one child had a contralateral relapse successfully enucleated. The clinical behaviour and management of WT in infants differ compared with that in older children. The diagnosis may be uncertain and it can be difficult to distinguish between malignant and non-malignant lesions. It is essential to realize the possibility of WT, even in children <1 y of age.     

Practical approach to childhood masturbation—a review

The aim of this article is to review the literature for information that could guide the clinical practitioner in the assessment and management of childhood masturbation. The boundary between normal and abnormal or deviant masturbation in children remains unclear. Besides the link with sexual abuse, other environmental factors and individual factors, as well as psychiatric disorders, are mentioned in relation to masturbation and sexual behaviour in general in children. However, evidence-based information is missing and, therefore, a safety management approach is advised when a clinician is confronted with childhood masturbation. We conclude that normal psychosexual development, as well as environmental and individual factors, should be considered in the assessment and management of childhood masturbation.     

Cluster headache-like disorder in childhood

This paper reviews the diagnostic features of cluster headache-like disorder and describes its presentation in childhood. Case note summaries of patients with this condition are presented in the context of a brief summary of the literature. Four patients (two girls; aged 12 to 15 years) with cluster headache-like disorder were seen over a period of four years in the paediatric neurology department of Birmingham Children's Hospital. Their histories and clinical courses are described. All had a history of "thrashing around" or bizarre behaviour during attacks, which had distracted attention from the headache and seemed to contribute to delay in diagnosis. It appears that cluster headache-like disorder does occur in childhood but is not common and can be mistaken for other conditions. A history of thrashing around accompanied by headache is very suggestive. Recognition of the symptoms in the general paediatric clinic would allow rapid diagnosis.     

Cluster headache-like disorder in childhood.

This paper reviews the diagnostic features of cluster headache-like disorder and describes its presentation in childhood. Case note summaries of patients with this condition are presented in the context of a brief summary of the literature. Four patients (two girls; aged 12 to 15 years) with cluster headache-like disorder were seen over a period of four years in the paediatric neurology department of Birmingham Children's Hospital. Their histories and clinical courses are described. All had a history of "thrashing around" or bizarre behaviour during attacks, which had distracted attention from the headache and seemed to contribute to delay in diagnosis. It appears that cluster headache-like disorder does occur in childhood but is not common and can be mistaken for other conditions. A history of thrashing around accompanied by headache is very suggestive. Recognition of the symptoms in the general paediatric clinic would allow rapid diagnosis.     

Predisposing factors in childhood masturbation in Turkey

The aim of this prospective, referral-based study was to assess demographical and developmental features associated with childhood masturbation in Turkey. A total of 61 children with childhood masturbation who were referred for the first time to the Department of Child Psychiatry were examined from demographical, psychosocial and medical aspects and compared with two control groups consisting of 61 age and gender matched children who were brought to the paediatric outpatient clinics and 43 children and adolescents who were the biological siblings of the study group. In children with masturbation, sleep difficulties were more frequent (P < 0.001) and breast-feeding was shorter than in controls (P < 0.05). The onset of masturbation was often associated with a genito-urinary disorder or a stressful life event like weaning, the birth of a sibling, or separation from the parents. Conclusion This is the first controlled study investigating the clinical and the developmental features of childhood masturbation. These findings may help identify children who could be at risk for this condition. Received: 14 June 1999 and in revised form: 25 October 1999 / Accepted: 5 November 1999     

Masturbation mimicking seizure in an infant

A 3.5-month-old boy was referred to our hospital with the diagnosis of infantile spasm. His developmental milestones and physical examination were normal. During the follow-up we recorded about six to nine attacks a day and the duration of attacks was changed between 15 seconds–1.5 minutes. During the episodic attacks he was flushed and had tonic posturing associated with crossing of thighs, without loss of consciousness and his eye movements were normal. Routine and long-term electroencephalogram (EEG) were normal during attack. The patient was diagnosed as masturbation according to the clinical and EEG findings. In conclusion, we would like to stress that masturbation should also be considered in infants who were admitted with complaint of seizure, and aside from EEG monitoring a detailed history and careful observation are very important factors in differential diagnosis of these two different conditions.     

Successful treatment of relapsed multifocal nonvisceral infantile myofibromatosis

Infantile myofibromatosis is a very rare tumor in childhood and infancy. The authors report on a 4-year-old boy who presented with two relapses of initially multifocal infantile myofibromatosis without visceral involvement. The lesions of the skull and the abdomen were excised while osteolytic lesions of the limbs were not treated. Chemotherapy or radiation have not been applicated. Three years after initial diagnosis there is no evidence for persistence or recurrence of the tumor.     

Acute intermittent porphyria in childhood: a population-based study

AIM: To establish age-adjusted reference intervals of urinary delta-aminolaevulinic acid (U-ALA) and porphobilinogen (U-PBG) in children, and to analyse the frequency and type of clinical manifestations of acute intermittent porphyria (AIP) in childhood. METHODS: Concentrations of U-ALA and U-PBG in healthy children aged 3-16y were analysed. In a population-based study in northern Sweden of 61 children aged < 18 y with DNA-verified AIP, the clinical manifestations of AIP in childhood were analysed prospectively (up to 2.5 y). Initially the children underwent a standardized investigation (anamnesis, physical examination, laboratory tests). Instructions were issued to keep a structured diary and to provide urine samples for ALA and PBG analyses in all situations of suspected AIP attacks (prospectively). RESULTS: Reference intervals for U-ALA and U-PBG showed age-group variations in children. Baseline levels of U-ALA and U-PBG are increased in gene carriers, one-quarter of them exceeding the 90th percentile of age- and gender-matched controls. Baseline levels did not distinguish symptomatic from non-symptomatic children in a short-term perspective. Clinical evidence of AIP attacks was found in 10% of child AIP gene carriers; in all cases the first attack occurred before the age of 15 y. CONCLUSION: AIP symptoms in children may be vague and of short duration and U-ALA and U-PBG levels are often elevated only slightly or not at all; thus, symptoms and signs may differ from those in adults. Children of AIP gene carriers should be DNA tested, followed up and carefully instructed on preventive measures to avoid developing manifest AIP.     

Sarcoidosis in children. Epidemiology in Danes, clinical features, diagnosis, treatment and prognosis

This paper reviews current knowledge of childhood sarcoidosis with regard to the epidemiology in Danes, clinical presentation, diagnostic procedures, treatment and prognosis. Sarcoidosis is a granulomatous disease of unknown aetiology, with multiorgan involvement. The diagnosis is confirmed by the demonstration of epitheloid cell granulomas in tissue biopsy specimens. During the period 1980-92, three cases of childhood sarcoidosis were recorded in Copenhagen County, which has a total population of 610,000. The approximate incidence of clinically recognized sarcoidosis in Danish children younger than 15 y of age was 0.22-0.27/100,000 children per year, corresponding to approximately three new cases in Denmark each year. The true incidence is unknown, since the disease is often asymptomatic and resolves without a clinical diagnosis being made. In children younger than 5y of age, the disease is characterized by involvement of skin, eyes and joints, whereas in older children involvement of lungs, lymph nodes and eyes predominate. The mainstay of treatment consists of oral corticosteroids. The risk/benefit ratio of using long-term corticosteroids needs to be evaluated in each individual patient. Some patients may benefit from additional therapy with methotrexate. The long-term prognosis is not well established, but it seems to be poorer in children younger than 5 y. Older children appear to have as favourable a prognosis as young adults.     

Syncope in childhood.

Syncope in childhood is very common. The vast majority of episodes are benign, and are due to neurocardiogenic syncope. Only a minority are due to something potentially more serious or life threatening. The diagnosis and differentiation of benign from more serious causes of syncope is made primarily by the history. Investigations are often unfruitful. The mainstay of management in neurocardiogenic syncope is reassurance. An increase in dietary fluid and salt can be helpful. Drug treatment is reserved for those with more frequent and severe attacks. Cardiac pacemakers should be reserved for those with very severe symptoms who are refractory to drug therapy.     

Syncope in childhood

Syncope in childhood is very common. The vast majority of episodes are benign, and are due to neurocardiogenic syncope. Only a minority are due to something potentially more serious or life threatening. The diagnosis and differentiation of benign from more serious causes of syncope is made primarily by the history. Investigations are often unfruitful. The mainstay of management in neurocardiogenic syncope is reassurance. An increase in dietary fluid and salt can be helpful. Drug treatment is reserved for those with more frequent and severe attacks. Cardiac pacemakers should be reserved for those with very severe symptoms who are refractory to drug therapy.     

Pediatric liver transplantation for neonatal‐onset Niemann‐Pick disease type C: Japanese multicenter experience

Niemann‐Pick disease type C (NPC) is a rare autosomal recessive inherited disease characterized by lysosomal accumulation of free cholesterol in macrophages within multiple organs. Infantile‐onset NPC often presents with jaundice and hepatosplenomegaly from birth, but these symptoms usually improve during early childhood, and it rarely progresses to liver failure. We report three cases from different hospitals in Japan; the patients developed neonatal‐onset NPC, and liver transplantation (LT) was performed as a life‐saving procedure. LT was performed at 19 days, 59 days, and 4 months of age, respectively. The last patient was diagnosed with NPC before LT, while the first two patients were diagnosed with neonatal hemochromatosis at LT. In these two patients, the diagnosis of NPC was made more than a year after LT. Even though oral administration of miglustat was started soon after the diagnosis of NPC, all patients showed neurological regression and required artificial respiratory support. All patients survived more than one year after LT; however, one patient died due to tracheal hemorrhage at 4.5 years of age, and another one patient was suspected as recurrence of NPC in liver graft. In conclusion, while LT may be a temporary life‐saving measure in patients with neonatal‐onset NPC leading to liver failure, the outcome is poor especially due to neurological symptoms. A preoperative diagnosis is thus critical.     

Cyclical vomiting syndrome

Cyclical vomiting syndrome (CVS) was described over 100 years ago, but it is often underdiagnosed and undertreated, even after a diagnosis is made. It is relatively common, affecting almost 2% of school-age children in some studies. Although it is traditionally seen as a childhood disease related to migraine, CVS does occur in adults. The main characteristic of CVS is the stereotypical recurrent nature of episodes of intense nausea and vomiting lasting from few hours to few days and followed by a complete resolution of symptoms. The diagnosis is predominantly a clinical one and there are internationally accepted criteria for diagnosis. The management of acute attacks of CVS aims to relieve symptoms, reduce the duration of attacks and prevent dehydration and hospital admission. Management also includes appropriate counselling on healthy lifestyle, provision of individual management plans and preventive medications. The aim of management is to reduce the number of attacks and improve quality of life. About half the children with CVS start to have migraine with or without aura in late adolescence and around 40% continue with CVS into early adult life. This article is aimed at healthcare professionals looking after children with CVS and describes the clinical presentation, the criteria required for diagnosis and outlines the different treatment options.     

Acute hematogenous osteomyelitis of the pelvis in childhood: Diagnostic clues and pitfalls

Acute hematogenous osteomyelitis (AHOM) of the pelvis is a rare form of childhood osteomyelitis. Prompted by a recent case, we reviewed the 146 reported cases of pelvic AHOM published since 1966. Classical childhood AHOM of tubular bones usually occurs in older children (mean age, 8.1 y) as opposed to younger children (aged 2-5 y). It is more common in boys than in girls (male to female ratio = 1.5:1). The most common site is the ilium (40%), followed by the ischium (28%) and the pubis (15%). In contrast to AHOM of the long bones, trauma is an uncommon antecedent event in pelvic AHOM. The pain in pelvic AHOM may be referred to the hip, thigh, or abdomen, often leading to misdiagnosis. On average, the correct diagnosis is delayed for 12 days. Such delays have resulted in a permanent disability in 3.4% of the cases. If diagnosed and treated promptly, uneventful recovery can be anticipated in all patients. This case history and review of the literature may facilitate early recognition of pelvic AHOM by primary care physicians, as well as by pediatric or orthopedic specialists.     

Pediatric hereditary angioedema

Hereditary angioedema (HAE) is a lifelong illness characterized by recurrent swelling of the skin, intestinal tract, and, ominously, the upper airway. It is caused by inadequate activity of the protein C1‐inhibitor, with dysfunction in the kallikrein/bradykinin pathway underlying the clinical symptoms. In addition to the physical symptoms, patients experience significant decrements in vocational and school achievement as well as in overall quality of life. Symptoms often begin in childhood and occur by age 20 in most patients, but life‐threatening attacks are uncommon in the pediatric population. The availability of new therapies has transformed the management of HAE.